一名男孩的食管肌肉肥大和“阿尔波特样”肾小球病变
Muscular hypertrophy of the oesophagus and "Alport-like" glomerular lesions in a boy.
作者信息
Legius E, Proesmans W, Van Damme B, Geboes K, Lerut T, Eggermont E
机构信息
Department of Paediatrics, University Hospital Gasthuisberg, Leuven, Belgium.
出版信息
Eur J Pediatr. 1990 Jun;149(9):623-7. doi: 10.1007/BF02034748.
PMID:2373112
Abstract
A patient with idiopathic muscular hypertrophy of the oesophagus, bilateral cataracts and an Alport-like nephropathy is described. Only 15 patients with a similar association have been described so far and autosomal dominant inheritance is most likely.
摘要
本文描述了一名患有特发性食管肌肉肥大、双侧白内障和阿尔波特样肾病的患者。迄今为止，仅报道过15例具有类似关联的患者，最可能为常染色体显性遗传。
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