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16
American Journal Of Biomedical Science & Pharmaceutical Innovation
(ISSN
–
2771-2753)
VOLUME
04
ISSUE
07
P
AGES
:
16-27
OCLC
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1121105677
Publisher:
Oscar Publishing Services
Servi
ABSTRACT
Respiratory distress syndrome (RDS) is one of the main causes of respiratory diseases and mortality among premature
newborns. It requires intensive medical care, including mechanical ventilation and surfactant therapy. Timely
detection and treatment of RDS are vital to prevent severe complications and improve outcomes in newborns. The
study of genetic mutations, such as SFTPB, SFTPC, and ABCA3, which affect the production and function of surfactant,
contributes to a deeper understanding of the pathophysiology of RDS and the development of targeted therapies.
Treating newborns with RDS requires significant resources, including prolonged stays in neonatal intensive care units,
increasing healthcare costs. Understanding genetic predisposition and individual risks for developing RDS allows for
personalized approaches to treatment and prevention, improving the quality of medical care. Identifying risk factors
such as cesarean section, multiple pregnancies, and maternal diseases helps develop preventive strategies to reduce
RDS incidence. Research is ongoing to improve existing treatment methods and develop new therapeutic strategies,
such as stem cell and gene therapy, to enhance outcomes in patients with RDS.
KEYWORDS
Respiratory distress syndrome, genetic research, SFTPB, SFTPC, ABCA3.
INTRODUCTION
Research Article
GENETIC RISK OF RESPIRATORY DISTRESS IN INFANTS
Submission Date:
July 03, 2024,
Accepted Date:
July 08, 2024,
Published Date:
July 13, 2024
Crossref doi:
https://doi.org/10.37547/ajbspi/Volume04Issue07-03
KHamidova Farida Muinovna
Samarkand State Medical University, Department of Pathological Anatomy with the Course of Dissection,
Samarkand, Uzbekistan
Ruzikulov Sobir Jovlievich
Samarkand State Medical University, Department of Pathological Anatomy with the Course of Dissection,
Samarkand, Uzbekistan
Journal
Website:
https://theusajournals.
com/index.php/ajbspi
Copyright:
Original
content from this work
may be used under the
terms of the creative
commons
attributes
4.0 licence.
Volume 04 Issue 07-2024
17
American Journal Of Biomedical Science & Pharmaceutical Innovation
(ISSN
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2771-2753)
VOLUME
04
ISSUE
07
P
AGES
:
16-27
OCLC
–
1121105677
Publisher:
Oscar Publishing Services
Servi
Respiratory distress syndrome (RDS) is a respiratory
disorder in newborns that manifests immediately after
birth and is one of the most common causes of
admission to neonatal intensive care units and
respiratory failure (1). Factors contributing to the
development of RDS include maladaptation, delayed
adaptation, congenital anomalies, and acquired
infections (2). The prevalence of RDS among newborns
is 18.5% in France (3), 4.24% in Pakistan (4), and 20.5% in
China (5). RDS also occurs in full-term infants,
accounting for 6.8% of cases (7). Another study found
that 48 out of 1986 newborns (2.42%) developed RDS,
of which 7 (14.6%) weighed more than 2500 grams (8).
Registered risk factors for RDS include male gender,
cesarean section, maternal diseases (hypertension,
diabetes), chorioamnionitis, and multiple pregnancies
(10, 11, 12). The prognosis of RDS depends on the
severity and underlying cause (5). In China, a mortality
rate of 3.9% was reported among full-term infants with
RDS (12). The incidence of RDS among full-term
newborns was 1.64%, with higher rates reported in
India (4.2%) (13), Turkey (7%) (14), and Sudan (4.83%)
(15). A prospective multicenter study in Italy showed a
lower incidence of RDS (1.16%) in full-term newborns
(16). Artificial conception is also associated with an
increased risk of RDS.
Recognizing risk factors for RDS is crucial for
developing preventive and early treatment strategies
(18). While the RDS group had more cases of cesarean
section and PROM, this did not reach statistical
significance. The association between cesarean section
and RDS has been confirmed in previous studies (19).
Gouyon JB et al. (20) established that elective cesarean
section is a major risk factor for RDS in full-term infants.
Fetal growth restriction (FGR) requires a unified
approach for early recognition and management to
improve antenatal and postnatal outcomes. FGR
management mainly focuses on the timing and mode
of delivery, with an emphasis on continuous fetal heart
rate monitoring and placental histopathological
examination (21). Managing pregnancies complicated
by FGR or small for gestational age (SGA) fetuses
requires standardized approaches and further
research to improve outcomes (22). Twin pregnancies
are associated with a high risk of complications, and
recommendations from various professional societies
often diverge, highlighting the need for international
consensus (23, 24). Premature births occur more
frequently via cesarean section, with early gestational
age being the main factor for neonatal morbidity and
mortality, while the mode of delivery does not affect
neonatal survival (25). Vaginal delivery in severe
preterm births is associated with an increased risk of
neonatal
and
perinatal
mortality
in
breech
presentation fetuses (26).
The onset of spontaneous labor promotes the rapid
clearance of fetal lung fluid and lung maturation (27).
Antenatal corticosteroids for women at risk of preterm
labor reduce the risk of moderate and severe RDS (28).
In our study, infants with RDS had lower birth weights
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and lower Apgar scores (29). The mortality rate among
full-term infants with RDS was 5.1%, which may be
associated with the widespread use of oxygen and
continuous positive airway pressure (CPAP) (13, 30).
Some risk factors affect the incidence of RDS
differently at different gestational ages (31).
Identifying genetic mutations and polymorphisms
associated with RDS will allow the development of
more rational treatment strategies and accurate
counseling for families whose children are at risk (32).
The incidence of RDS in preterm infants is 45% at 23-33
weeks of gestation, decreasing to 4% at 34-36 weeks
and less than 1% at over 37 weeks. In Korea, the
incidence of RDS in full-term infants was more often
observed in males (OR 3.288), with cesarean section
(OR 15.03), and multiple pregnancies (OR 4.216) (33).
RDS often arises from a deficiency of surfactant, which
is synthesized by type II alveolocytes. Surfactant
consists of lipids and proteins (SP-A, SP-B, SP-C, SP-D).
Mutations in the genes encoding these proteins
(SFTPB, SFTPC, ABCA3) can lead to surfactant
dysfunction and RDS. For example, the SFTPB
mutation, 121ins2, accounts for more than half of all
cases of SP-B deficiency, inherited in an autosomal
recessive manner. SP-C deficiency is inherited in an
autosomal dominant manner, and ABCA3 mutations
are a major cause of congenital surfactant dysfunction.
In a retrospective analysis of 332 twin pairs, a mixed-
effects logistic regression analysis (MELR) was used to
assess the influence of various factors on RDS. Male
gender, birth weight, 5-minute Apgar score, and
treatment site were significant covariates. ACE analysis
showed that 49.7% of the variability in RDS
susceptibility is due to genetic factors (34).
Inherited SP-B deficiency is a rare cause of respiratory
failure in full-term newborns. Homozygosity for the
SFTPB mutation (1549C->GAA or 121ins2) leads to fatal
respiratory failure with the absence of SP-B mRNA and
protein. SP-B deficiency is also associated with
abnormal processing of proSP-C and a deficiency of
active SP-C peptide (35).
Pulmonary surfactant protein A (SP-A) plays a key role
in lung protection and surfactant function. The genetic
complexity of SP-A has increased during evolution,
especially in regulatory regions. Most species have one
SP-A gene, but humans and primates have two genes
(SFTPA1 and SFTPA2). SP-A expression regulation
involves transcription, splicing, mRNA degradation,
and translation. This report aims to describe the
genetic complexity of the SFTPA1 and SFTPA2 genes
and review the regulatory mechanisms controlling
their expression (36).
Pulmonary surfactant, a lipoprotein complex,
maintains alveolar integrity and plays an important role
in lung protection and inflammation control. Genetic
variants of surfactant proteins, including single
nucleotide polymorphisms (SNPs), haplotypes, and
other variations, have been associated with acute and
chronic lung diseases. Hydrophilic surfactant proteins
SP-A and SP-D, also known as collectins, play an
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important role in innate immunity by binding to
pathogens and allergens and promoting their
clearance. A review of studies links genetic
polymorphisms of surfactant proteins A and D with
respiratory and non-respiratory diseases in adults,
children, and newborns (37).
Case-control groups showed significant differences in
genotype and allele frequencies of SP-A (+186A/G,
+655C/T) and SP-B (1580C/T), indicating an association
of these polymorphisms with the risk of RDS in preterm
infants. Decreased serum SP-A levels may serve as new
biomarkers for the detection and monitoring of RDS
(38).
The frequencies of SP-A1 6A2 and 6A3 alleles were low,
while SP-A2 1A0 and 1A1 alleles were high in normal
preterm Chinese infants. The SP-A1 6A2 allele may be a
susceptibility gene for RDS (39). The SP-B 1580C/T
polymorphism contributes to the etiology of RDS,
while SP-B -18A/C shows no significant association (41).
Specific genetic variants of SP-A may affect the
susceptibility to RDS in preterm infants, independent
of other perinatal factors (43). RDS is caused by lung
immaturity and a temporary deficiency of alveolar
surfactant. Genetic predisposition to RDS varies
depending on the degree of prematurity. Genetic
variability in the SP-A and SP-B genes is associated with
susceptibility to RDS, while rare mutations in SP-B and
SP-C cause severe lung disease. Genetic studies may
lead to new diagnostic and therapeutic approaches for
preventing respiratory failure and inflammatory lung
diseases (44, 45).
Unlike lethal neonatal RDS caused by homozygous
ABCA3 mutations, individual ABCA3 mutations account
for ~10.9% of the attributable risk among full-term and
late preterm infants of European descent. These
mutations are prevalent among individuals of
European and African descent in the general
population (46). Rare or novel genetic variants in the
genes encoding surfactant proteins were identified in
35% of preterm infants with severe RDS, indicating
possible
interaction
between
genetic
and
developmental factors (47). Mutations in the genes
encoding surfactant proteins B and C (SP-B and SP-C)
and the phospholipid transporter ABCA3 are
associated with respiratory distress and interstitial
lung disease. The expression of these proteins
increases with gestational age and is crucial for
surfactant function. SP-B and ABCA3 are necessary for
packaging surfactant phospholipids, while SP-B and SP-
C are important for surfactant adsorption on the
alveolar surface. SFTPB mutations are associated with
fatal neonatal RDS, while SFTPC mutations are linked
to interstitial lung disease in infants, children, and
adults (48).
Congenital surfactant deficiency (CSD) is a neonatal
disease associated with defects in the synthesis and
secretion of surfactant in type II alveolar cells.
Abnormal lamellar bodies were identified in four
infants with CSD. Two had SP-B deficiency, and two had
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ABCA3 mutations. Transmission electron microscopy
(TEM) revealed the absence of mature lamellar bodies
and the presence of electron-dense inclusions,
highlighting the importance of TEM for CSD diagnosis
(49, 50).
Heterozygous SFTPC mutations are associated with
interstitial lung disease (pILD) in adults and children.
ABCA3 mutations also cause pILD and can modify
disease severity in patients with SFTPC mutations (52).
SFTPC mutations lead to various manifestations and
outcomes. For example, the c.435G->A mutation is
associated with early symptom onset and severe
respiratory failure requiring lung transplantation (53).
SFTPC mutations can also alter surfactant protein
trafficking
and
processing,
affecting
clinical
manifestations (54).
SFTPC mutations and other genetic factors play a
significant role in the development and manifestation
of pediatric interstitial lung diseases. Genetic testing is
essential for diagnosing such diseases (55-60).
Knowledge of airway anomalies and their association
with genetic mutations is crucial for the correct
diagnosis and treatment of respiratory distress in
newborns (61, 62). Among 17 children from 16 families
with mutations in the SFTPC, ABCA3, and NKX2-1 genes,
congenital deficiency of surfactant protein C, brain-
lung-thyroid syndrome (BLTS), and congenital ABCA3
protein deficiency were observed. The lethality rate for
surfactant protein C deficiency was 37.5%. Genetic
testing is necessary for children with severe respiratory
distress syndrome and a family history, as well as in
cases where respiratory symptoms are combined with
congenital hypothyroidism and neurological pathology
(63, 64, 65, 66).
The risk of respiratory disorders in newborn boys
carrying the 2A allele and the 1A2A genotype of the
T3801C polymorphic locus of the CYP1A1 gene is twice
as high. The 1A1F genotype of the C-163A polymorphic
locus of the CYP1A2 gene is a marker for the risk of RDS
complicated by pneumonia (67). A study of 130
pregnancies with FGR and structural malformations
showed that 28.5% of cases had chromosomal
abnormalities. Using SNP arrays and CMV DNA testing
in FGR cases can improve pregnancy diagnosis and
management (68, 69, 70). Genetic variation in LPCAT1
may be involved in the pathophysiology of RDS in
preterm infants of the Han Chinese population. The GG
genotype and G allele of rs9728 are protective factors
for RDS development (71). The NK2 homeobox-1 gene
(NKX2.1) is associated with the morphogenesis and
function of the lungs, thyroid, and CNS. Mutations
cause a rare form of progressive respiratory failure
known as brain-lung-thyroid syndrome. Deletions at
14q13.3 adjacent to NKX2-1 can cause various
symptoms, including choreoathetosis, congenital
hypothyroidism, and respiratory distress syndrome.
Genetic testing is important for diagnosing and
managing these diseases (72-76).
Thus, the role of genetic defects in the development of
neonatal RDS is an important aspect in understanding
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the pathophysiology of the disease. Genetic
polymorphisms and mutations in surfactant protein
genes significantly influence susceptibility to RDS and
can be used to improve diagnosis, prevention, and
treatment of this serious condition.
CONCLUSIONS
1.
Risk factors for full-term newborns include
male gender, cesarean section, and multiple
pregnancies. Early diagnosis and treatment are
necessary to prevent complications.
2.
Genetic mutations in the SFTPB, SFTPC, and
ABCA3 genes encoding surfactant proteins can lead to
RDS and interstitial lung diseases with various clinical
manifestations.
3.
Genetic variability in surfactant protein genes
and transporters, such as ABCA3, may enhance the
effect of immature surfactant production, worsening
the course of RDS.
4.
The molecular mechanisms of RDS are
associated with surfactant deficiency, disrupting its
function and leading to respiratory disorders.
5.
Transcription factors and genes regulating
surfactant protein expression are important for lung
development and function and are candidates for
research on new treatments for RDS.
6.
Population
genetic
studies
will
help
understand the contribution of genetic mutations to
the incidence of RDS and other lung diseases,
improving
treatment
strategies
and
genetic
counseling.
REFERENCES
1.
Horowitz K, Feldman D, Stuart B, Borgida A,
Ming Victor, Fang Y, Herson V. // Full-term
neonatal intenstive care unit admission in an
urban community hospital: the role of
respiratory morbidity. The Journal of Maternal-
Fetal & Neonatal Medicine. 2011;24(11):1407
–
1410.
2.
Gallacher D, Hart K, Kotecha S. // Common
respiratory conditions of the newborn.
Breathe. 2016;12(1):30
–
42.
3.
Chalacon M, Debillon T, Plantaz D, Ego A. //
Facteurs de risque de détresse respiratoire
chez les prématurés modérés (32 à 34
semaines d’aménorrhée) [Internet] Médecine
humaine et pathologie. 2012.
4.
Saeed Z, Lutufullah G, Hassan R. Prevalence
and Aetiology of Respiratory Distress in
newborns. PAFMJ. 2013 Mar;63(1).
5.
Qian L, Liu C, Guo Y, et al. // Current status of
neonatal acute respiratory disorders: a one-
year prospective survey from a Chinese
neonatal network. Chin Med J (Engl)
2010;123:2769
–
2775
6.
Jian Wang, Xuehua Liu, Tong Zhu, Chaoying
Yan. 2015
7.
Bouziri A, Ben Slima S, Hamdi A, et al. // Acute
respiratory distress syndrome in infants at
term and near term about 23 cases. Tunis Med.
2007;85:874
–
879.
Volume 04 Issue 07-2024
22
American Journal Of Biomedical Science & Pharmaceutical Innovation
(ISSN
–
2771-2753)
VOLUME
04
ISSUE
07
P
AGES
:
16-27
OCLC
–
1121105677
Publisher:
Oscar Publishing Services
Servi
8.
Nagendra K, Wilsom CG, Ravichander B, Sood
S, Singh SP. // Incidence and Etiology of
Respiratori Distress in Newborn. Med J Armed
Forces India. 2017;55(4):331
–
333
9.
Ghafoor T, Mahmud S, Ali S, Dogar SA. //
Incidence of respiratory distress syndrome.
Journal of the College of Physicians and
Surgeons, Pakistan : JCPSP. 2003;13(5):271
–
273
10.
Reuter S, Moser C, Baack M. // Respiratory
Distress in the Newborn. Pediatrics in Review.
2014;35(417)/
11.
Hansen AK, Wisborg K, Uldbjerg N, Henriksen
TB. // Risk of respiratory morbidity in term
infants delivered by elective caesarean section:
cohort study. BMJ. 2008;336:85
–
87.
12.
Jing Liu, Na Yang, Ying Liu. // High-risk Factors
of Respiratory Distress Syndrome in Term
Neonates: A Retrospective Case-control Study.
Balkan Med J. 2014;31(1):64
–
68.
13.
Kumar A, Bhat BV. // Epidemiology of
respiratory distress of newborns. Indian
journal of pediatrics. 1996;63(1):93
–
98.
14.
Fedakar A, Aydogdu C. // Clinical features of
neonates treated in the intensive care unit for
respiratory distress. The Turkish journal of
pediatrics. 2011;53(2):173
–
179
15.
Abdelrahman SM, Hamed SM, Nasr A. //
Neonatal respiratory distress in Omdurman
Maternity Hospital, Sudan. Sudanese journal of
paediatrics. 2014;14(1):65
–
70
16.
Rubaltelli FF, Dani C, Reali MF, et al. // Italian
Group of Neonatal Pneumology. Acta
paediatrica. 12. Vol. 87. Oslo, Norway: 1992.
Acute neonatal respiratory distress in Italy: a
one-year prospective study; pp. 1261
–
1268.
1998
17.
Erin V McGillick, Sandra Orgeig , Marie T
Williams, Janna L Morrison. // Risk of
Respiratory Distress Syndrome and Efficacy of
Glucocorticoids: Are They the Same in the
Normally Grown and Growth-Restricted Infant?
J
Matern
Fetal
Neonatal
Med.
2017
Jun;30(11):1267-1272.
18.
Edwards MO, Kotecha SJ, Kotecha S. //
Respiratory distress of the term newborn
infant.
Paediatric
respiratory
reviews.
2013;14(1):29
–
36. quiz -7.
19.
Sun H, Xu F, Xiong H, et al. // Characteristics of
respiratory distress syndrome in infants of
different
gestational
ages.
Lung.
2013;191(4):425
–
433.
20.
Gouyon JB, Ribakovsky C, Ferdynus C, Quantin
C, Sagot P, Gouyon B. // Severe respiratory
disorders in term neonates. Paediatric and
perinatal epidemiology. 2008;22(1):22
–
30
21.
Sonia Giouleka , Ioannis Tsakiridis , Apostolos
Mamopoulos , Ioannis Kalogiannidis ,
Apostolos Athanasiadis , Themistoklis Dagklis //
Fetal Growth Restriction: A Comprehensive
Volume 04 Issue 07-2024
23
American Journal Of Biomedical Science & Pharmaceutical Innovation
(ISSN
–
2771-2753)
VOLUME
04
ISSUE
07
P
AGES
:
16-27
OCLC
–
1121105677
Publisher:
Oscar Publishing Services
Servi
Review of Major Guidelines. Obstet Gynecol
Surv. 2023 Nov;78(11):690-708.
22.
Lesley M McCowan, Francesc Figueras, Ngaire
H Anderson. // Evidence-based national
guidelines for the management of suspected
fetal
growth
restriction:
comparison,
consensus, and controversy. J Obstet Gynecol.
2018 Feb;218(2S):S855-S868.
23.
Omer Weitzner, Jon Barrett , Kellie E Murphy ,
John Kingdom , Amir Aviram , Elad Mei-Dan ,
Liran Hiersch , Greg Ryan, Tim Van Mieghem ,
Nimrah Abbasi , Nathan S Fox, Andrei Rebarber
, Vincenzo Berghella , Nir Melamed. // National
and
international
guidelines
on
the
management
of
twin
pregnancies:
a
comparative review. Am J Obstet Gynecol.
2023 Dec;229(6):577-598.
24.
Ioannis Tsakiridis, Sonia Giouleka , Apostolos
Mamopoulos , Apostolos Athanasiadis ,
Themistoklis Dagklis. // Management of Twin
Pregnancies: A Comparative Review of
National and International Guidelines Obstet
Gynecol Surv. 2020 Jul;75(7):419-430.
25.
Kyriaki Mitta, Ioannis Tsakiridis, Georgios
Kapetanios, Antigoni Pavlaki , Efthymios
Tarnanidis , Themistoklis Dagklis , Apostolos
Athanasiadis, Apostolos Mamopoulos. // Mode
of Delivery and Neonatal Outcomes of Preterm
Deliveries: A Retrospective Study in Greece.
Medicina (Kaunas). 2023 Dec 20;60(1):10.
26.
E Demertzidou, C Chatzakis , P Cavoretto, K
Sarafidis, M Eleftheriades, A Gerede, K Dinas ,
A Sotiriadis // Effect of mode of delivery on
perinatal outcome in severe preterm birth:
systematic
review
and
meta-analysis
Ultrasound
Obstet
Gynecol.
2023
Oct;62(4):471-485.
27.
Ramachandrappa A, Jain L. // Elective Cesarean
Section: It’s Impact on Neonatal Respiratory
Outcome. Clinics in perinatology. 2008;35(2)
373-vii
28.
Roberts D, Brown J, Medley N, Dalziel SR. //
Antenatal corticosteroids for accelerating fetal
lung maturation for women at risk of preterm
birth. The Cochrane database of systematic
reviews. 2017;3:Cd004454
29.
Condo V, Cipriani S, Colnaghi M, et al. //
Neonatal respiratory distress syndrome: are
risk factors the same in preterm and term
infants? The journal of maternal-fetal &
neonatal medicine. the official journal of the
European Association of Perinatal Medicine,
the Federation of Asia and Oceania Perinatal
Societies, the International Society of Perinatal
Obstet. 2017;30(11):1267
–
1272.
30.
Liu J, Shi Y, Dong JY, et al. // Clinical
characteristics, diagnosis and management of
respiratory distress syndrome in full-term
neonates.
Chinese
medical
journal.
2010;123(19):2640
–
2644
Volume 04 Issue 07-2024
24
American Journal Of Biomedical Science & Pharmaceutical Innovation
(ISSN
–
2771-2753)
VOLUME
04
ISSUE
07
P
AGES
:
16-27
OCLC
–
1121105677
Publisher:
Oscar Publishing Services
Servi
31.
Condò, V., Cipriani, S., Colnaghi, M., Bellù, R.,
Zanini, R., Bulfoni, C., … Mosca, F.
// Neonatal
respiratory distress syndrome: are risk factors
the same in preterm and term infants? The
Journal
of Maternal-Fetal
&
Neonatal
Medicine, 2016. 30(11), 1267
–
1272.
32.
F. SESSIONS COLE, AARON HAMVAS, AND
LAWRENCE M. // Genetic Disorders of Neonatal
Respiratory Function. NOGEE Vol. 50, No. 2,
2001
33.
Jin Hyeon Kim, Sang Min Lee, Young Hwan Lee.
//Risk factors for respiratory distress syndrome
in
full-term
neonates.
Department
of
Pediatrics, Yeungnam University College of
Medicine, Daegu, Korea Yeungnam Univ J Med
2018;35(2):187-191
34.
ORLY LEVIT, YUAN JIANG, MATTHEW J.
BIZZARRO, NAVEED HUSSAIN, CATALIN S.
BUHIMSCHI, JEFFREY R. GRUEN, HEPING
ZHANG, AND VINEET BHANDARI 2009
35.
Tredano M, van Elburg RM, Kaspers AG,
Zimmermann LJ, Houdayer C, Aymard P, Hull
WM, Whitsett JA, Elion J, Griese M, Bahuau M.
1999
36.
Silveyra P., Floros J. // Genetic complexity of the
human surfactant-associated proteins SP-A1
and SP-A2 //Gene.
–
2013.
–
Т. 531. –
№. 2. –
С.
126-132
37.
Silveyra P., Floros J. // Genetic variant
associations of human SP-A and SP-D with
acute and chronic lung injury //Frontiers in
bioscience: a journal and virtual library.
–
2012.
–
Т. 17. –
С. 407
38.
Чанг
Х.
И.
и
др.
//
Генетические
полиморфизмы SP
-A, SP-
B и SP
-
D и риск
респираторного
дистресс
-
синдрома
у
недоношенных
новорожденных //Medical
Science
Monitor:
Международный
медицинский журнал экспериментальных и
клинических исследований. –
2016.
–
Т. 22. –
С. 5091.
39.
W Wang X, Zhang Y, Mei H, An C, Liu C, Zhang
Y, Zhang Y, Xin C. // Study on the Relationship
Between Respiratory Distress Syndrome and
SP-A1 (rs1059057) Gene Polymorphism in
Mongolian Very Premature Infants. Front
Pediatr. 2020 Mar 17;8:81.
40.
Zhai L, Wu HM, Wei KL, Zhao SM, Jiang H. //
Genetic polymorphism of surfactant protein A
in neonatal respiratory distress syndrome].
Zhongguo Dang Dai Er Ke Za Zhi. 2008
Jun;10(3):295-8. Chinese.
41.
Liu Y, Wang X, Li P, Zhao Y, Yang L, Yu W, Xie H.
// Targeting MALAT1 and miRNA-181a-5p for the
intervention of acute lung injury/acute
respiratory distress syndrome. Respir Res. 2021
Jan 6;22(1):1.
42.
Chang HY, Li F, Li FS, Zheng CZ, Lei YZ, Wang J.
// Genetic Polymorphisms of SP-A, SP-B, and SP-
D and Risk of Respiratory Distress Syndrome in
Volume 04 Issue 07-2024
25
American Journal Of Biomedical Science & Pharmaceutical Innovation
(ISSN
–
2771-2753)
VOLUME
04
ISSUE
07
P
AGES
:
16-27
OCLC
–
1121105677
Publisher:
Oscar Publishing Services
Servi
Preterm Neonates. Med Sci Monit. 2016 Dec
24;22:5091-5100.
43.
Tsitoura MI, Stavrou EF, Maraziotis IA, Sarafidis
K, Athanassiadou A, Dimitriou G. // Surfactant
Protein A and B Gene Polymorphisms and Risk
of Respiratory Distress Syndrome in Late-
Preterm Neonates. PLoS One. 2016 Nov
11;11(11):e0166516.
44.
Hallman M, Haataja R. // Genetic basis of
respiratory distress syndrome. Front Biosci.
2007 Jan 1;12:2670-82.
45.
Hallman M, Haataja R, Marttila R. // Surfactant
proteins and genetic predisposition to
respiratory
distress
syndrome.
Semin
Perinatol. 2002 Dec;26(6):450-60.
46.
Wambach JA, Wegner DJ, Depass K, Heins H,
Druley TE, Mitra RD, An P, Zhang Q, Nogee LM,
Cole FS, Hamvas A. // Single ABCA3 mutations
increase risk for neonatal respiratory distress
syndrome. Pediatrics. 2012 Dec;130(6):e1575-
82.
47.
Somaschini M, Presi S, Ferrari M, Vergani B,
Carrera P. // Surfactant proteins gene variants
in premature newborn infants with severe
respiratory distress syndrome. J Perinatol. 2018
Apr;38(4):337-344.
48.
Wert SE, Whitsett JA, Nogee LM. // Genetic
disorders of surfactant dysfunction. Pediatr
Dev Pathol. 2009 Jul-Aug;12(4):253-74.
49.
Edwards V, Cutz E, Viero S, Moore AM, Nogee
L. // Ultrastructure of lamellar bodies in
congenital surfactant deficiency. Ultrastruct
Pathol. 2005 Nov-Dec;29(6):503-9.
50.
Bruder E, Hofmeister J, Aslanidis C, Hammer J,
Bubendorf L, Schmitz G, Rufle A, Bührer C. //
Ultrastructural and molecular analysis in fatal
neonatal interstitial pneumonia caused by a
novel ABCA3 mutation. Mod Pathol. 2007
Oct;20(10):1009-18.
51.
Citti A, Peca D, Petrini S, Cutrera R, Biban P,
Haass C, Boldrini R, Danhaive O. //
Ultrastructural characterization of genetic
diffuse lung diseases in infants and children: a
cohort study and review. Ultrastruct Pathol.
2013 Oct;37(5):356-65.
52.
Bullard JE, Nogee LM. // Heterozygosity for
ABCA3 mutations modifies the severity of lung
disease associated with a surfactant protein C
gene (SFTPC) mutation. Pediatr Res. 2007
Aug;62(2):176-9.
53.
Litao MK, Hayes D Jr, Chiwane S, Nogee LM,
Kurland G, Guglani L. 2017
54.
Brasch F, Griese M, Tredano M, Johnen G, Ochs
M, Rieger C, Mulugeta S, Müller KM, Bahuau M,
Beers MF. // Interstitial lung disease in a baby
with a de novo mutation in the SFTPC gene. Eur
Respir J. 2004 Jul;24(1):30-9.
55.
Litao MK, Hayes D Jr, Chiwane S, Nogee LM,
Kurland G, Guglani L. // A novel surfactant
Volume 04 Issue 07-2024
26
American Journal Of Biomedical Science & Pharmaceutical Innovation
(ISSN
–
2771-2753)
VOLUME
04
ISSUE
07
P
AGES
:
16-27
OCLC
–
1121105677
Publisher:
Oscar Publishing Services
Servi
protein C gene mutation associated with
progressive respiratory failure in infancy.
Pediatr Pulmonol. 2017 Jan;52(1):57-68.
56.
Hong D, Dai D, Liu J, Zhang C, Jin T, Shi Y, Jiang
G, Mei M, Wang L, Qian L. // Clinical and genetic
spectrum of interstitial lung disease in Chinese
children associated with surfactant protein C
mutations. Ital J Pediatr. 2019 Aug 28;45(1):117.
57.
Salerno T, Peca D, Menchini L, Schiavino A,
Boldrini R, Esposito F, Danhaive O, Cutrera R.
Surfactant Protein C-associated interstitial lung
disease; three different phenotypes of the
same SFTPC mutation. Ital J Pediatr. 2016 Feb
29;42:23.
58.
Huang L, Wang M, Chen Z, Yan Y, Zhang X,
Zheng Y, Chen H, Ji W. // I73T mutation in the
pulmonary
surfactant
protein
C
gene
associated with pediatric interstitial lung
disease: a case study and the review of related
literature]. Zhonghua Er Ke Za Zhi. 2014
Nov;52(11):846-50. Chinese.
59.
Liu J, Chen JH, Wang YQ, Nong GM, Zheng YJ,
Hao CL. // Genetic variants in the surfactant
protein C gene 218 site are associated with
pediatric interstitial lung disease: seven cases
study]. Zhonghua Er Ke Za Zhi. 2019 Jan
2;57(1):21-26. Chinese.
60.
Chen JH, Zhao DY, An SH, Zheng YJ, Wang HP,
Ma HL. // Clinical manifestations of three cases
of surfactant protein C p. V39L mutation].
Zhonghua Er Ke Za Zhi. 2017 Jun 2;55(6):457-
461. Chinese.
61.
Hegde SV, Greenberg B. // Newborn respiratory
distress:
airway
abnormalities.
Semin
Ultrasound CT MR. 2015 Apr;36(2):138-45.
Mirza A, Martinez M, Kilaikode S. 2022
62.
Овсянников
Д.Ю.,
Жесткова
М.А.,
Стрельникова В.А., Аверин А.П и др.
ГЕНЕТИЧЕСКИЕ ДИСФУНКЦИИ СИСТЕМЫ
СУРФАКТАНТА
У
ДЕТЕЙ:
РЕЗУЛЬТАТЫ
МНОГОЦЕНТРОВОГО ИССЛЕДОВАНИЯ //
Доктор.Ру. 2023. №3.
63.
Wu TT, Yu YM, Tang P, Zhuang QD, Zhang Y, Lai
NY, Ding QL. //Familial interstitial lung disease
associated with surfactant protein C gene
mutation in adults: report of two cases and
literature review]. Zhonghua Jie He He Hu Xi Za
Zhi. 2022 Jan 12;45(1):53-58. Chinese.
64.
Zhu CM, Cao L, Huang RY, Wang YJ, Zou JZ,
Yuan XY, Song F, Chen HZ. // Pulmonary
surfactant protein gene mutation associated
with pediatric interstitial lung disease: a case
study and the review of related literature].
Zhonghua Er Ke Za Zhi. 2013 Feb;51(2):84-9.
Chinese.
65.
Schuerman FA, Griese M, Gille JP, Brasch F,
Noorduyn LA, van Kaam AH. // Surfactant
protein B deficiency caused by a novel
mutation involving multiple exons of the SP-B
gene. Eur J Med Res. 2008 Jun 24;13(6):281-6.
Volume 04 Issue 07-2024
27
American Journal Of Biomedical Science & Pharmaceutical Innovation
(ISSN
–
2771-2753)
VOLUME
04
ISSUE
07
P
AGES
:
16-27
OCLC
–
1121105677
Publisher:
Oscar Publishing Services
Servi
66.
Л. И. Хамидуллина, К. В. Данилко, Р. М.
Файзуллина, Т. В. Викторова, В. В. Викторов.
2012
67.
C Vayssière, L Sentilhes , A Ego , C Bernard , D
Cambourieu, C Flamant , G Gascoin , A
Gaudineau , G Grangé , V Houfflin-Debarge , B
Langer, V Malan, P Marcorelles, J Nizard , F
Perrotin , L Salomon, M-V Senat, A Serry , V
Tessier , P Truffert , V Tsatsaris , C Arnaud , B
Carbonne.// Fetal growth restriction and intra-
uterine growth restriction: guidelines for
clinical practice from the French College of
Gynaecologists and Obstetricians Eur J Obstet
Gynecol Reprod Biol. 2015 Oct:193:10-8.
68.
Xiaoqing Wu, Shuqiong He, Qingmei Shen, Shiyi
Xu, Danhua Guo , Bin Liang, Xinrui Wang, Hua
Cao, Hailong Huang, Liangpu Xu. // Etiologic
evaluation and pregnancy outcomes of fetal
growth restriction (FGR) associated with
structural malformations. Sci Rep. 2024 Apr
22;14(1):9220.
69.
Yao MY, Zhang WH, Ma WT, Liu QH, Xing LH,
Zhao GF. // Long non-coding RNA MALAT1
exacerbates
acute
respiratory
distress
syndrome by upregulating ICAM-1 expression
via microRNA-150-5p downregulation. Aging
(Albany NY). 2020 Apr 21;12(8):6570-6585.
70.
Shen W, Kuang P, Wang B, Zeng Q, Chen C, Lin
X. // Genetic Polymorphisms of LPCAT1, CHPT1
and PCYT1B and Risk of Neonatal Respiratory
Distress Syndrome among a Chinese Han
Population.
Pediatr
Neonatol.
2020
Jun;61(3):318-324.
71.
Salerno T, Peca D, Menchini L, Schiavino A,
Petreschi F, Occasi F, Cogo P, Danhaive O,
Cutrera R. // Respiratory insufficiency in a
newborn with congenital hypothyroidism due
to a new mutation of TTF-1/NKX2.1 gene.
Pediatr Pulmonol. 2014 Mar;49(3):E42-4.
72.
Machida O, Sakamoto H, Yamamoto KS,
Hasegawa Y, Nii S, Okada H, Nishikawa K,
Sumimoto SI, Nishi E, Okamoto N, Yamamoto T
2024
73.
Villafuerte B, Natera-de-Benito D, González A,
Mori MA, Palomares M, Nevado J, García-
Miñaur S, Lapunzina P, González-Granado LI,
Allende LM, Moreno JC. 2018
74.
Barnett CP, Mencel JJ, Gecz J, Waters W, Kirwin
SM, Vinette KM, Uppill M, Nicholl J.//
Choreoathetosis, congenital hypothyroidism
and neonatal respiratory distress syndrome
with intact NKX2-1. Am J Med Genet A. 2012
Dec;158A(12):3168-73.
75.
Peca D, Petrini S, Tzialla C, Boldrini R, Morini F,
Stronati M, Carnielli VP, Cogo PE, Danhaive O. //
Altered surfactant homeostasis and recurrent
respiratory failure secondary to TTF-1 nuclear
targeting defect. Respir Res. 2011 Aug
25;12(1):115.
