FARBER DISEASE — DISEASE DESCRIPTION WITH CASE REPORTS
https://doi.org/10.15690/vsp.v13i6.1207
Abstract
Farber disease (lipogranulomatosis, OMIM 228000) — is extremely rare autosomal-recessive disorder from group of lysosomal storage disorders, due to deficiency of acid ceramidase activity enzyme. Farber disease has a lot of clinical masques and resembles to different inflammatory disorders, such as juvenile arthritis, chronic urticaria, larynx papillomatosis and others. Most effective therapeutic method is bone marrow transplantation, which leads to minimization of disabling and improve quality of life. Currently a medication for enzyme replacement therapy of Farber disease is produced and it is under the clinical trials. We describe clinical course of two patients with different types of Farber disease. First case — 10 years old boy with II–III type of disease, and second — with fatal outcome in the age of 4 years 3 months of boy with I (classical) type of Farber disease.
About the Authors
I. A. Chikova
Saint-Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
N. V. Buchinskaya
Saint-Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
М. М. Kostik
Saint-Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
V. V. Avramenko
Saint-Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
O. L. Krasnogorskaya
Saint-Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
R. A. Nasirov
Saint-Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
T. Levade
Laboratoire de Biochimie Metabolique, Institut Federatif de Biologie, CHU Purpan, Toulouse
France
France
V. G. Chasnyk
Saint-Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
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Review
For citations:
Chikova I.A., Buchinskaya N.V., Kostik М.М., Avramenko V.V., Krasnogorskaya O.L., Nasirov R.A., Levade T., Chasnyk V.G. FARBER DISEASE — DISEASE DESCRIPTION WITH CASE REPORTS. Current Pediatrics. 2014;13(6):78-84. (In Russ.) https://doi.org/10.15690/vsp.v13i6.1207
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