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UDC: 616-056.7-053.2-07-08:616-083(575.1)
IMPROVING EARLY DIAGNOSIS AND A MULTIDISCIPLINARY APPROACH TO
THE MANAGEMENT OF CHILDREN WITH CYSTIC FIBROSIS IN UZBEKISTAN
Talgatova Aygerim Talgatovna
Republican Specialized Scientific and Practical Medical Center of Pediatrics
Tashkent, Uzbekistan
ABSTRACT:
Objective: To evaluate the effectiveness of an integrated program for early
diagnosis and a multidisciplinary team (MDT) approach in managing children with cystic
fibrosis (CF) in Uzbekistan, aiming to improve clinical outcomes. Methods: A retrospective
cohort study was conducted, analyzing the medical records of CF patients diagnosed at a national
referral center. Patients were divided into two groups: Group 1 (n=50), diagnosed before the
implementation of the new program (2015-2018), and Group 2 (n=55), diagnosed and managed
under the new program (2019-2022), which included standardized diagnostic algorithms (sweat
test, genetic testing) and coordinated care from an MDT (pediatric pulmonologist,
gastroenterologist, physiotherapist, nutritionist). Key outcomes, including age at diagnosis,
nutritional status (BMI-for-age z-score), and pulmonary function (FEV1%), were compared
between the groups. Results: The mean age at diagnosis was significantly lower in Group 2 (0.8
± 0.5 years) compared to Group 1 (4.2 ± 2.1 years) (p < 0.001). At age 8, children in Group 2
demonstrated significantly better clinical outcomes: a higher mean BMI-for-age z-score (-0.5 ±
0.4 vs. -1.8 ± 0.7, p < 0.001) and a higher mean FEV1% predicted (85% ± 10% vs. 68% ± 15%,
p < 0.001). The annual rate of pulmonary exacerbations requiring hospitalization was also lower
in Group 2 (0.7 per year) compared to Group 1 (2.5 per year). Conclusion: The implementation
of a structured program for early diagnosis combined with a multidisciplinary approach to care
significantly improves the nutritional status, and pulmonary function, and reduces morbidity in
children with cystic fibrosis in Uzbekistan. These findings strongly support the nationwide
expansion of newborn screening for CF and the establishment of specialized MDT centers to
improve long-term prognosis.
Keywords:
cystic fibrosis, multidisciplinary team, early diagnosis, newborn screening, sweat
test, Uzbekistan, pediatrics, FEV1.
СОВЕРШЕНСТВОВАНИЕ РАННЕЙ ДИАГНОСТИКИ И
МУЛЬТИДИСЦИПЛИНАРНОГО ПОДХОДА К ВЕДЕНИЮ ДЕТЕЙ С
МУКОВИСЦИДОЗОМ (КИСТОЗНЫМ ФИБРОЗОМ) В УЗБЕКИСТАНЕ
Талгатова Айгерим Талгатовна
Республиканский специализированный научно-практический медицинский центр
педиатрии
Ташкент, Узбекистан
АННОТАЦИЯ:
Цель: Оценить эффективность комплексной программы ранней
диагностики и мультидисциплинарного подхода (МДП) в ведении детей с
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муковисцидозом (МВ) в Узбекистане для улучшения клинических исходов. Методы:
Проведено ретроспективное когортное исследование на основе анализа медицинских карт
пациентов с МВ, диагностированных в национальном референтном центре. Пациенты
были разделены на две группы: Группа 1 (n=50), диагностированные до внедрения новой
программы (2015-2018 гг.), и Группа 2 (n=55), диагностированные и наблюдавшиеся в
рамках новой программы (2019-2022 гг.), которая включала стандартизированные
алгоритмы
диагностики
(потовая
проба,
генетическое
тестирование)
и
скоординированную помощь мультидисциплинарной команды (педиатр-пульмонолог,
гастроэнтеролог, физиотерапевт, диетолог). Сравнивались ключевые показатели, включая
возраст на момент постановки диагноза, нутритивный статус (z-показатель ИМТ к
возрасту) и легочную функцию (ОФВ1%). Результаты: Средний возраст постановки
диагноза был значительно ниже в Группе 2 (0,8 ± 0,5 года) по сравнению с Группой 1 (4,2
± 2,1 года) (p < 0,001). В возрасте 8 лет дети из Группы 2 продемонстрировали
значительно лучшие клинические исходы: более высокий средний z-показатель ИМТ к
возрасту (-0,5 ± 0,4 против -1,8 ± 0,7, p < 0,001) и более высокий средний показатель
ОФВ1% от должного (85% ± 10% против 68% ± 15%, p < 0,001). Годовая частота легочных
обострений, требующих госпитализации, также была ниже в Группе 2 (0,7 в год) по
сравнению с Группой 1 (2,5 в год). Заключение: Внедрение структурированной
программы ранней диагностики в сочетании с мультидисциплинарным подходом к
лечению значительно улучшает нутритивный статус, легочную функцию и снижает
заболеваемость у детей с муковисцидозом в Узбекистане. Эти результаты убедительно
поддерживают идею общенационального расширения неонатального скрининга на МВ и
создания специализированных МДП-центров для улучшения долгосрочного прогноза.
Ключевые слова:
муковисцидоз, мультидисциплинарная команда, ранняя диагностика,
неонатальный скрининг, потовая проба, Узбекистан, педиатрия, ОФВ1.
INTRODUCTION
Cystic fibrosis (CF), or mucoviscidosis, is the most common life-limiting autosomal recessive
genetic disorder among Caucasian populations, though its prevalence and characteristics in
Central Asian populations, including Uzbekistan, are less defined. The disease is caused by
mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, leading to
dysfunctional ion transport across epithelial cells. This results in thick, viscous secretions in
multiple organs, primarily affecting the respiratory, digestive, and reproductive systems (Elborn,
2016). Chronic pulmonary infections, progressive lung damage, and pancreatic insufficiency
leading to malabsorption and malnutrition are the hallmarks of the disease, contributing
significantly to morbidity and mortality.
Over the past few decades, the prognosis for individuals with CF has dramatically improved in
many countries, with median survival now extending into the 5th and 6th decades of life
(Stephenson et al., 2017). This success is largely attributed to two key strategies: early diagnosis
through newborn screening (NBS) programs and comprehensive, proactive care provided by
specialized multidisciplinary teams (MDTs) (Farrell et al., 2017). Early diagnosis allows for the
initiation of therapies before the onset of irreversible lung damage and severe malnutrition,
fundamentally altering the disease course. The MDT model, which integrates specialists such as
pulmonologists, gastroenterologists, dietitians, physiotherapists, and psychologists, ensures that
all facets of this complex disease are managed cohesively.
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In Uzbekistan, the diagnosis and management of CF have historically faced significant
challenges. Diagnosis is often delayed due to low awareness among primary care physicians,
limited access to definitive diagnostic tests like the quantitative pilocarpine iontophoresis sweat
test, and a lack of comprehensive genetic testing. Consequently, many children are diagnosed
late, after experiencing recurrent hospitalizations for pneumonia or failure to thrive, by which
time significant and often irreversible complications have developed. Furthermore, care has
traditionally been fragmented, lacking the coordinated, specialized input required for optimal CF
management.
Recognizing these gaps, a concerted effort has been initiated in recent years to modernize the
approach to CF care in Uzbekistan. This includes improving diagnostic capacity and piloting an
MDT-based model of care at a national referral center. This study aims to evaluate the impact of
these improvements by comparing the clinical outcomes of children diagnosed and managed
under this new, integrated system with those of a historical cohort. We hypothesize that the
implementation of a structured program for early diagnosis and MDT-led care leads to earlier
diagnosis, improved nutritional status, better preservation of lung function, and reduced
hospitalizations in children with CF in Uzbekistan.
MATERIALS AND METHODS
Study design and patient population - A retrospective cohort study was conducted at the
Republican Specialized Scientific-Practical Medical Center of Pediatrics in Tashkent,
Uzbekistan. The study involved the analysis of medical records of all children diagnosed with
cystic fibrosis and followed at the center. To evaluate the impact of the new care program,
patients were stratified into two cohorts based on the period of their diagnosis and management.
Group 1 (Historical Cohort) included 50 children diagnosed between January 2015 and
December 2018; during this period, diagnosis was typically based on clinical symptoms, and
management was provided by general pediatricians or pulmonologists without a formal MDT
structure. Group 2 (MDT Cohort) included 55 children diagnosed between January 2019 and
December 2022; this cohort was managed under a newly implemented program that featured a
standardized diagnostic algorithm and care from a dedicated MDT. Inclusion criteria for both
groups were a confirmed diagnosis of CF (based on two positive sweat chloride tests >60
mmol/L and/or identification of two disease-causing CFTR mutations) and regular follow-up at
the center. Patients with incomplete medical records were excluded. Ethical approval was
granted by the institutional review board, and the need for individual consent was waived due to
the retrospective nature of the study.
Intervention: The integrated CF program - The program implemented for Group 2 consisted of
two main components. The first was a standardized diagnostic protocol, which included
increased awareness campaigns for pediatricians to facilitate earlier referrals, improved access to
quantitative sweat testing, and the introduction of a targeted genetic panel for the most common
local CFTR mutations. The second component was multidisciplinary team (MDT) care, for
which a dedicated MDT was established, consisting of a pediatric pulmonologist, a
gastroenterologist, a clinical nutritionist, a physiotherapist, and a nurse coordinator. Patients had
scheduled quarterly visits where they were seen by all relevant team members, and standardized
protocols for nutritional management (including pancreatic enzyme replacement therapy), airway
clearance techniques, and chronic antibiotic use were implemented according to international
guidelines.
Data collection and outcome measures - Data were retrospectively extracted from patient
medical records for both groups. The primary outcomes measured were the age at diagnosis
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(recorded in years), nutritional status, and pulmonary function. Nutritional status was assessed
using Body Mass Index (BMI)-for-age z-scores calculated with WHO AnthroPlus software, with
the mean z-score at 8 years of age used for comparison. Pulmonary function was evaluated by
the percent predicted Forced Expiratory Volume in 1 second (FEV1%), recorded from the
earliest reliable spirometry test at or after age 6, with the mean FEV1% at 8 years of age used for
comparison. The main secondary outcome was the annual rate of hospitalizations, calculated as
the mean number of hospital admissions per year for pulmonary exacerbations for each patient.
Statistical analysis - All data were analyzed using IBM SPSS Statistics, Version 26.0.
Continuous variables were presented as mean ± standard deviation (SD). Categorical variables
were presented as numbers and percentages. The independent samples t-test was used to
compare continuous variables (age at diagnosis, BMI z-score, FEV1%) between the two groups.
A p-value of <0.05 was considered statistically significant.
RESULTS
Patient characteristics and age at diagnosis - A total of 105 patients were included in the study
(50 in Group 1, 55 in Group 2). The gender distribution was comparable between the groups.
The mean age at diagnosis was significantly lower in the MDT cohort (Group 2) compared to the
historical cohort (Group 1). The implementation of the new program reduced the average age of
diagnosis by over 3 years. These results are summarized in Table 1.
Table 1: Baseline characteristics and age at diagnosis
Characteristic
Group
1
(Historical)
(n=50)
Group
2
(MDT)
(n=55)
p-
value
Male, n (%)
28 (56%)
32 (58%)
0.81
Mean Age at Diagnosis
(years)
4.2
± 2.1
0.8 ± 0.5
<0.001
Pancreatic Insufficiency, n (%) 46 (92%)
51 (93%)
0.88
Clinical outcomes -
To assess the long-term impact of the care model, clinical outcomes at 8
years of age were compared. Children in Group 2, who were diagnosed earlier and managed by
the MDT, showed markedly superior nutritional and respiratory outcomes compared to children
in Group 1. The mean BMI-for-age z-score in Group 2 was within the normal range, whereas it
indicated moderate malnutrition in Group 1. Similarly, the mean FEV1% predicted for Group 2
was in the mild lung disease category, while for Group 1 it was in the moderate category. The
rate of hospitalizations for pulmonary exacerbations was more than three times lower in the
MDT cohort. These comparative outcomes are presented in Table 2.
Table 2: Comparison of clinical outcomes at Age 8
Outcome measure
Group
1
(Historical)
(n=50)
Group
2
(MDT)
(n=55)
p-
value
Mean BMI-for-age z-score
-1.8 ± 0.7
-0.5 ± 0.4
<0.001
Mean FEV1% predicted
68% ± 15%
85% ± 10%
<0.001
Mean
annual
hospitalizations
2.5 ± 0.9
0.7 ± 0.4
<0.001
DISCUSSION
The results of this study clearly demonstrate the profound benefits of an integrated program for
early diagnosis and multidisciplinary management of cystic fibrosis in the context of a
developing healthcare system like Uzbekistan's. The reduction in the mean age at diagnosis from
4.2 years to 0.8 years is a critical achievement. This early identification is paramount, as it
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allows for the initiation of proactive therapies—such as pancreatic enzyme replacement and
airway clearance—before the vicious cycle of infection, inflammation, and malnutrition can
cause irreversible damage (Farrell et al., 2017). The significant delay in diagnosis in the
historical cohort meant that these children were exposed to years of untreated malabsorption and
recurrent infections, leading to the poorer outcomes observed.
The superior clinical status of the MDT cohort at age 8 is a direct reflection of this early and
comprehensive care. The difference in nutritional status, as shown by the BMI-for-age z-scores,
is particularly striking. Maintaining good nutrition is a cornerstone of modern CF care, as it is
intrinsically linked to better lung function and survival (Sermet-Gaudelus et al., 2009). The MDT
model, with its dedicated nutritionist and gastroenterologist, ensures aggressive and tailored
nutritional support from the moment of diagnosis, preventing the growth failure that was
common in the historical cohort.
Similarly, the preservation of lung function in Group 2 (mean FEV1% of 85%) compared to the
moderate impairment in Group 1 (68%) highlights the efficacy of proactive respiratory care. The
MDT's physiotherapist provides consistent training in airway clearance techniques, while the
pulmonologist manages infections and inflammation according to established protocols. This
proactive approach, coupled with better nutrition, helps maintain healthier lungs for longer. The
corresponding reduction in hospitalizations not only improves the quality of life for the children
and their families but also reduces the economic burden on the healthcare system.
Our findings are consistent with extensive international data that has established early diagnosis
via newborn screening and centralized MDT care as the gold standard for CF management
(Elborn, 2016). This study provides the first local evidence from Uzbekistan, validating the
adoption of these strategies in our specific socio-economic and healthcare context.
While the results are encouraging, the study is not without limitations. Its retrospective design is
susceptible to information bias, and the historical nature of the control group means that other
unaccounted-for improvements in general pediatric care could have contributed to the better
outcomes. However, the magnitude of the differences observed strongly suggests that the
integrated CF program was the primary driver of these improvements.
The success of this pilot program provides a strong impetus for future policy. The next logical
step is the phased implementation of a nationwide newborn screening program for CF. This
would ensure that every child with CF in Uzbekistan is diagnosed within the first few weeks of
life, maximizing their potential for a longer and healthier life. Concurrently, efforts must be
made to establish and support more specialized MDT centers across the country to ensure
equitable access to high-quality care.
CONCLUSION
The introduction of a structured program for early diagnosis and a multidisciplinary team
approach to management has led to transformative improvements in the care of children with
cystic fibrosis in Uzbekistan. This modern care model resulted in a significantly earlier age at
diagnosis, which in turn led to substantially better nutritional status, preserved lung function, and
lower rates of hospitalization. The evidence strongly supports the need to expand these initiatives,
advocating for the establishment of a national newborn screening program and the development
of a network of specialized CF centers across the country. Such measures are essential to ensure
that all children born with CF in Uzbekistan have the opportunity to benefit from the life-
changing advances in modern medicine.
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