ACADEMIC AND RESEARCH PEER-REVIEWED MEDICAL JOURNALISSN 1727-2378 (Print)         ISSN 2713-2994 (Online)
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Rare Hereditary Pancreatic Diseases in Children: Shwachman-Diamond Syndrome and Johanson-Blizzard Syndrome. Discussion of Clinical Cases

Bibliography link: Ipatova М. G., Shumilov P. V., Schigoleva N. Е., Mukhina Yu. G. Rare Hereditary Pancreatic Diseases in Children: Shwachman-Diamond Syndrome and Johanson-Blizzard Syndrome. Discussion of Clinical Cases. Doctor.Ru. 2017; 12(141): 30–35.
14 November 00:00

Objective of the Paper: To describe the clinical and laboratory features of Shwachman-Diamond syndrome and Johanson-Blizzard syndrome in children who were followed up.

Key Points: Shwachman-Diamond syndrome and Johanson-Blizzard syndrome are rare hereditary pancreatic diseases associated with exocrine pancreatic deficiency. In children, these syndromes are characterized by steatorrhea and arrested physical development from the very first days of their lives. Pathognomonic for Shwachman-Diamond syndrome are hematologic disorders, primarily in the form of neutropenia, whereas for Johanson-Blizzard syndrome these are multiple congenital abnormalities. These syndromes are incurable and require a comprehensive approach to treatment. Special attention should be paid to correction of nutritional status with medical high-calorie formulas.

Conclusion: Timely diagnosis and comprehensive therapy, including nutritional support, enzyme replacement therapy, and vitamin therapy, improve quality of life and prognosis for patients with congenital pancreatic diseases associated with exocrine pancreatic deficiency.

М. G. Ipatova — N. I. Pirogov Russian National Research Medical University, Moscow. N. F. Filatov City Pediatric Clinical Hospital No. 13, Moscow City Department of Health. Е-mail: mariachka1@mail.ru

P. V. Shumilov — N. I. Pirogov Russian National Research Medical University, Moscow. Е-mail: peter_shumilov@mail.ru

N. Е. Shchigoleva — Russian Pediatric Clinical Hospital, Moscow. Е-mail: gastro@rdkb.ru

Yu. G. Mukhina — N. I. Pirogov Russian National Research Medical University, Moscow. Е-mail: mjug@mail.ru


Доктор.ру
14 November 00:00
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