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黑人儿童的肾病性胱氨酸病。病例报告。

Nephropathic cystinosis in black children. Case reports.

作者信息

Sochett E, Pettifor J M, Milner L, Thomson P D, Berkowitz F

出版信息

S Afr Med J. 1984 Mar 10;65(10):397-8.

PMID:6701696
Abstract

Cystinosis is thought to be rare in Black patients. Two cases of nephropathic cystinosis in Blacks in early childhood are reported. One patient presented with classic features of Fanconi's syndrome with failure to thrive and rickets, while the other had polyuria, growth failure and rickets. This article highlights the need for the exclusion of cystinosis in any Black patient presenting with Fanconi's syndrome.

摘要

胱氨酸病在黑人患者中被认为较为罕见。本文报道了两例黑人儿童期肾病性胱氨酸病病例。一名患者表现出范科尼综合征的典型特征,伴有生长发育迟缓与佝偻病,而另一名患者有多尿、生长发育不良和佝偻病。本文强调,对于任何表现出范科尼综合征的黑人患者,都有必要排除胱氨酸病。

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