Rathbun syndrome(hypophosphatasia)due to the heterozygous variant c.297+5G>A in alkaline phosphatase with unusual phenotype  

作　　者：Josef Finsterer Claudia Stöllberger 

机构地区：[1]Department of Neurology,Klinik Landstrasse,Messerli Institute,Vienna,Austria [2]nd Medical Department with Cardiology and Intensive Care Medicine,Klinik Landstrasse,Vienna,Austria

出　　处：《Chinese Medical Journal》2022年第3期377-378,共2页中华医学杂志（英文版）

摘　　要：To the Editor:Hypophosphatasia(HPP)is a musculoskeletal inborn error-of-metabolism caused by variants in alkaline phosphatase(ALPL)with reduced activity of the serum tissue-non-specific alkaline phosphatase,[1]which is predominantly expressed in brain,muscle,bones,liver,and kidneys.[2]Accordingly,HPP is a multi-system disorder affecting bones and more rarely extra-osseus organs.[2]Osseus features of HPP include decreased bone quality,osteoid accumulations,reduced bone-mineralization,increased incidence of fractures,premature closure of sutures,bone deformities,dwarfism,Bechterew disease,early loss of teeth,intracranial hypertension,and prolonged bone healing.[1]Extra-osseous features of HPP include seizures,[3]myopathy,[2]hepatopathy,and renal insufficiency.HPP responds favorably to enzyme replacement therapy with asfotase-α.[1]

关 键 词：metabolism HEALING ORGANS 

分 类 号：R68[医药卫生—骨科学]