Lysosomal storage diseases: difficulties in differintial diagnosis
https://doi.org/10.23946/2500-0764-2019-4-2-129-133
Abstract
Inherited metabolic disorders represent a heterogeneous group of diseases which are difficult to be diagnosed in pediatric and therapeutic practice. Theirclinical symptoms are non-specific and common. Here we discuss epidemiology, pathophysiology, signs and symptoms, and diagnostics of lysosomal storage diseases. We also describe a clinical case of Wolman disease underlining the importance of clinical alertness on inherited metabolic disorders. As a replacement therapy for these diseases is rapidly developing, a proper diagnosis is of crucial importance to improve prognosis and quality of life.
About the Authors
T. Y. Pomytkina
Kemerovo State Medical University
Russian Federation
Russian Federation
Prof. Tatiana Y. Pomytkina - MD, DSc, Head of the Department of Ambulatory Care, Postgraduate Training and Nursing.
22a, Voroshilova Street, Kemerovo, 650056
A. Y. Davydova
Belyaev Kemerovo Regional Clinical Hospital
Russian Federation
Dr. Alexandra Y. Davydova - MD, Gastroenterologist, Gastroenterology Unit
Russian Federation
Dr. Alexandra Y. Davydova - MD, Gastroenterologist, Gastroenterology Unit
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Review
For citations:
Pomytkina T.Y., Davydova A.Y. Lysosomal storage diseases: difficulties in differintial diagnosis. Fundamental and Clinical Medicine. 2019;4(2):129-133. (In Russ.) https://doi.org/10.23946/2500-0764-2019-4-2-129-133
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