Hypophosphatasia – biochemical and clinical manifestations, molecular enetic principles
Authors:
Ilja Chandoga 1; Ján Futas 2; RNDr. Robert Petrovič, Ph.D. 2; Ján Chandoga 2
Authors‘ workplace:
II. ortopedicko-traumatologická klinika LF UK a N, Bratislava
1; Ústav lekárskej biológie, genetiky a linickej genetiky LF UK a N, Bratislava
2
Published in:
Čas. Lék. čes. 2011; 150: 541-545
Category:
Case Report
Overview
Hypophosphatasia is a rare hereditary metabolic disorder accompanying deficit of tissue nonspecific serum alkaline phosphatase. The incidence of overt forms is estimated about 1 : 100000 live births. In the prenatal manifestation the disease may cause severe damage to the foetus with intrauterine death. In hildren here is efect of mineralization ith ickets signs and the subsequent hypercalcaemia a ypercalciuria may lead to death. In adults the main manifestation is osteomalacia, skeletal eformities and ractures, arly rthritis. In evere orms the heredity is autosomal ecessive ype. In mild orms the heredity may e ominant r ecessive. In two case reports we present clinical ourse of he disease n wo dult isters, where diagnosis of hypophosphatasia was first time onfirmed n Slovak population using olecular enetic methods.
Key words:
hypophosphatasia, alkaline phosphatase, osteomalacia, amino acid changes – T83, E174K.
Sources
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Addictology Allergology and clinical immunology Angiology Audiology Clinical biochemistry Dermatology & STDs Paediatric gastroenterology Paediatric surgery Paediatric cardiology Paediatric neurology Paediatric ENT Paediatric psychiatry Paediatric rheumatology Diabetology Pharmacy Vascular surgery Pain managementArticle was published in
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