| hypophosphatasia | A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcaemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin d-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (12 Dec 1998) |
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Synonyms : Hypophosphatasias
| hypophosphatasia |
a genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D–resistant rickets, failure of the calvaria to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading where the ribs meet their cartilages, and rachitic bone changes (bowleg). There are three clinical types based upon age of onset and severity of symptoms. Two are autosomal recessive: the infantile type is the most severe, lethal in over half the cases; and the childhood type has its first symptom usually the spontaneous loss of deciduous teeth. The adult type is the mildest and is autosomal dominant. See also pseudohypophosphatasia.
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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