Clinical management of hypophosphatasia
نویسندگان
چکیده
منابع مشابه
Hypophosphatasia
Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The prevalence of severe forms of the disease has been estimated at 1/100 000. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without mineralized bone to early loss of teeth without bo...
متن کاملClinical and Genetic Findings of Turkish Hypophosphatasia Cases
OBJECTIVE Hypophosphatasia (HPP) is a rare, commonly unrecognized hereditary mineralization defect with a dramatically poor prognosis in severe cases. This study is the first to examine the detailed clinical and laboratory characteristics of patients with HPP and healthy carriers in Turkey. METHODS The study data were obtained retrospectively from the files of 10 healthy carriers and of 16 ca...
متن کاملA clinical and research protocol for characterizing patients with hypophosphatasia.
H ypophosphatasia is a rare inherited disorder characterized by a wide spectrum of defects in mineralized tissues. The disease is usually inherited as an autosomal recessive trait with a prevalence of approximately 1/100,000 live births. 1 The clinical manifestations are highly variable, ranging from an almost total lack of skeletal formation to the premature loss of the permanent anterior teet...
متن کاملHypophosphatasia in the Newborn.
Rathbun (1948) first described the syndrome of hypophosphatasia as a definite entity, although previous authors had described patients now thought to be examples of this syndrome. This disorder has also been called rickets with deficiency of alkaline phosphatase (Sobel, Clark, Fox and Robinow, 1953; Schlesinger, Luder and Bodian, 1955) and osteodysmetamorphosis foetalis (Engfeldt and Zetterstro...
متن کاملTransformative therapy in hypophosphatasia
Hypophosphatasia (HPP) is a rare, potentially life-threatening disease characterised by hypomineralisation of bones and teeth. The fundamental defect is reduced functional activity of the enzyme tissue-nonspecific alkaline phosphatase (usually just termed alkaline phosphatase [ALP] in clinical practice). Homozygous or compound heterozygous mutations in the ALPL gene result in the most severe ph...
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ژورنال
عنوان ژورنال: Clinical Cases in Mineral and Bone Metabolism
سال: 2015
ISSN: 1971-3266
DOI: 10.11138/ccmbm/2015.12.2.170