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Experimental and Clinical Gastroenterology

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Ehlers-Danlos syndrome with damage to the digestive tract, heart, kidneys and other organs

https://doi.org/10.31146/1682-8658-ecg-185-1-183-190

Abstract

Relevance: Hereditary connective tissue disorders (HCTDs) are a heterogeneous group of diseases caused by mutations in the genes of extracellular matrix proteins or proteins involved in connective tissue morphogenesis. Mutations of these genes lead to the development of many HCTDs. The best known monogenic variants of HCTDs are Marfan syndrome, Ehlers-Danlos syndrome, and osteogenesis imperfecta. Inheritance is mainly autosomal, dominant or recessive. Although the first signs of HCTDs develop as early as the first year of life, it takes several years for pediatricians and specialty physicians to make the diagnosis of connective tissue dysplasia because of a lack of clear methodological approach. The disease is multi-morbid and may manifest under gastroenterological, cardiological, nephrological, or respiratory masks.

Aim: to present a clinical case of Ehlers-Danlos syndrome with multiorgan digestive, heart, kidneys, and other lesions.

Material and methods: the case history is presented of a 15‑year-old boy with Ehlers-Danlos syndrome, classic type.

Discussion: defective collagen increased the connective tissue extensibility affecting function of many body organs and systems, including gastrointestinal, biliary, and urinary tracts, musculoskeletal and cardiovascular systems. Small developmental anomalies led to functional (motor) disorders, which contributed to the chronic organic pathology (erosive reflux esophagitis, gastroduodenitis, cholelithiasis, proctosigmoiditis, chronic pyelonephritis, or chronic sinusitis). Given the multi-organ character of the lesions, the progredient course of bone and joint changes, and early development of disability, the prognosis for the health of this child is serious. A multidisciplinary approach is important to plan the follow-up (with orthopedist, gastroenterologist, cardiologist, ophthalmologist, and nephrologist). Timely rehabilitation, therapeutic physical training courses, massage, metabolic, and anti-relapse treatment are necessary to slow down the progredient course of the hereditary connective tissue disease.

About the Authors

S. N. Borzakova
Pirogov Russian National Research Medical University; Research Institute for Healthcare Organization and Medical Management of Moscow Healthcare Department
Russian Federation

Svetlana N. Borzakova, сandidate of medical sciences, Associate Professor of the Department of pediatrics with infectious diseases in children of the Faculty of Continuing Professional Education; head of the оrganizational and methodological department; Scopus Author ID: 55883991400

Moscow, Russia



L. A. Kharitonova
Pirogov Russian National Research Medical University
Russian Federation

Lyubov A. Kharitonova, doctor of medical sciences, professor, head. Department of Pediatrics with Infectious Diseases in Children of the Faculty of Continuing Professional Education; Scopus Author ID: 7004072783, Web of Science (WoS): M‑4632–2018

Moscow, Russia



I. M. Osmanov
Bashlayeva Children’s City Hospital
Russian Federation

Ismail M. Osmanov, doctor of medical sciences, professor, head. Bashlayeva; Scopus Author ID: 6507239731

Moscow, Russia



I. D. Maikova
Bashlayeva Children’s City Hospital
Russian Federation

Irina D. Maikova, associate head physician

Moscow, Russia



References

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Review

For citations:


Borzakova S.N., Kharitonova L.A., Osmanov I.M., Maikova I.D. Ehlers-Danlos syndrome with damage to the digestive tract, heart, kidneys and other organs. Experimental and Clinical Gastroenterology. 2021;1(1):183-190. (In Russ.) https://doi.org/10.31146/1682-8658-ecg-185-1-183-190

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