ХАЛҚАРО ИЛМИЙ-АМАЛИЙ КОНФЕРЕНЦИЯ
«ПРЕВЕНТИВ ПЕДИАТРИЯ»-2024
74
SEVERE COMBINED PRIMARY IMMUNODEFICIENCY AS AN
UNUSUAL CAUSE OF FEVER OF UNKNOWN ORIGIN: A CASE
REPORT.
Kamola Kakharova
1
, Feruza Gafarova
2
Outpatient department, National Children`s medical centre, Tashkent, Uzbekistan
1
Centre for the development of professional qualification of medical workers,
Tashkent, Uzbekistan
2
Background
: Primary immunodeficiencies are a diverse group of genetically
determined defects that can occur across all parts of the immune system.
Lead to an
increased risk of bacterial, fungal and/or viral infections. We described a case study of severe
combined PID with a confirmed by WGS.
Methods
: A family with twins applied to our center: a girl and a boy - at the age of
3.5 months: the girl is relatively healthy, boy I.O. proband 3.5 months - old. Parents -
consanguineous marriage.
Results:
Admitted with complaints of prolonged fever for a month, frequent bacterial
infections, multiple pustular rashes on the scalp, limbs, perianal area, weakness, mucositis,
diarrhea. Anthropometric indicators correspond to age. Laboratory tests: CBC is noted RBC
1,92*10
12
/l
, WBC 1,02*10
9
/L, HGB 48 g/l, HCT 14,5%, PLT 42 *10
9
/L, NEUT 0,55*
10
9
/L, LYMP 0,17 *10
9
/L, CRP 68,95 mg/L, procalcitonin 4 µg/L. Stool: WBC 10-15/1,
culture (Gram staining) without growth. Blood Culture (Gram staining) - MRSE S.
haemolyticus. Immunogram: CD4/CD8 index of immunoregulation - 0/1, IgA - 1.10 g/l,
IgM - 0.55 g/l, IgG - 5.25 g/l. Decreased T-helper inducers. IRI is reduced. B-lymphocytes
are reduced. Activation of T-cytotoxic lymphocytes. Decline IgM. Antibacterial, G-CSF N2
therapy was started in the ICU.
With suspicion of hypoglobulinemia, a solution of normal
human immunoglobulin at the rate of 1 g/kg was injected, hemotransfusion of irradiated red
blood cell mass N2 was performed. His condition improved - temperature normalized, CBC-
RBC 3.95*10
12
/L, WBC 2.02 *10
9
/L, HGB 90 g/l, HCT 32.5%, PLT 150*10
9
/L, NEUT
1.05*10
9
/L, LYMP 0.2*10
9
/L. The stools were unchanged. After 3 days, the child started
vomiting, diarrhea became more frequent, hemodynamic indices worsened, and he was
transferred to the ICU with abdominal bloating. G-CSF N2 was administered to treat sepsis,
ХАЛҚАРО ИЛМИЙ-АМАЛИЙ КОНФЕРЕНЦИЯ
«ПРЕВЕНТИВ ПЕДИАТРИЯ»-2024
75
WBC 7.02*10
9
/L, NEUT 6.05*10
9
/L. A review abdominal radiograph revealed free air
under the diaphragmatic dome. Peritoneal sign was positive. Diagnostic laparotomy and
abdominal cavity revision were performed with the diagnosis of intestinal perforation,
enterocolitis. During the operation, perforation of the lower colon was detected; suturing
was performed. Healing of the surgical wound was primary, perianal ulcers healed. Fever
persisted throughout the postoperative period. Unfortunately, the boy`s condition worsened
due to progression of enterocolitis, ongoing bacterial sepsis. Based on the results of complete
genome sequencing(postmortem), the diagnosis of severe combined primary
immunodeficiency by autosomal recessive type was made.
Conclusions:
The
leading method in the diagnosis of this disease is the method of
clinical investigation, which includes a thorough collection of the anamnesis, information
about the patient`s morbidity, the type of infectious agents, the presence of concomitant
syndromes. It should be noted that closely related marriages increase the risk of giving birth
to children with this pathology.
Early diagnosis of children with suspected PID and further
treatment with stem cell transplantation will allow to achieve complete recovery of these
severe patients.
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ОПОРНО-ДВИГАТЕЛЬНЫХ ОСЛОЖНЕНИЙ АКРОМЕГАЛИИ."
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медицине
4 (2020): 414-418.
2.
Халимова, З. Ю., Холикова, А. О., & Сафарова, Ш. М. (2016). Характеристика
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, (10
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как диагностического маркера уровня гормона роста у больных акромегалией."
Международный эндокринологический журнал
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