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Familial chylomicronemia in children: clinical cases
D. I. Sadykova, 
D. R. Sabirova,
A. R. Shakirova,
R. M. Sayfullina,
I. V. Damotsev,
A. Kh. Bulatova,
Zh. A. Gagieva,
Z. R. Khabibrakhmanova,
E. S. Slastnikova
D. R. Sabirova,
A. R. Shakirova,
R. M. Sayfullina,
I. V. Damotsev,
A. Kh. Bulatova,
Zh. A. Gagieva,
Z. R. Khabibrakhmanova,
E. S. Slastnikova https://doi.org/10.21508/1027-4065-2025-70-5-91-96
Abstract
Cases of familial chylomicronemia or hyperlipoproteinemia type I, an autosomal recessive disorder associated with impaired functional activity of lipoprotein lipase, are rarely encountered in pediatric clinical practice. This disorder is characterized by hypertriglyceridemia due to elevated chylomicrons. Patients present with recurrent abdominal pain, episodes of acute pancreatitis, erosive skin xanthomas, and lipemic (“milky white”) plasma/serum. Two clinical cases of this rare disorder are presented.
About the Authors
D. I. Sadykova
Kazan State Medical University
Russian Federation
Russian Federation
420012, Kazan
D. R. Sabirova
Kazan State Medical University
Russian Federation
Russian Federation
420012, Kazan
A. R. Shakirova
Children’s Republican Clinical Hospital
Russian Federation
Russian Federation
420138, Kazan
R. M. Sayfullina
Children’s Republican Clinical Hospital
Russian Federation
Russian Federation
420138, Kazan
I. V. Damotsev
Millennium Clinic
Russian Federation
Russian Federation
421001, Kazan
A. Kh. Bulatova
Kazan State Medical University
Russian Federation
Russian Federation
420012, Kazan
Zh. A. Gagieva
Nazran Central Regional Hospital
Russian Federation
Russian Federation
386132, Nazran
Z. R. Khabibrakhmanova
Kazan State Medical University
Russian Federation
Russian Federation
420012, Kazan
E. S. Slastnikova
Kazan State Medical University
Russian Federation
Russian Federation
420012, Kazan
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Review
For citations:
Sadykova D.I., Sabirova D.R., Shakirova A.R., Sayfullina R.M., Damotsev I.V., Bulatova A.Kh., Gagieva Zh.A., Khabibrakhmanova Z.R., Slastnikova E.S. Familial chylomicronemia in children: clinical cases. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2025;70(5):91-96. (In Russ.) https://doi.org/10.21508/1027-4065-2025-70-5-91-96
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