Tolaymat A, Sakarcan A, Neiberger R
University of Florida Health Science Center, Pediatrics Department, Jacksonville 32209.
J Am Soc Nephrol. 1992 Feb;2(8):1310-7. doi: 10.1681/ASN.V281310.
Fanconi syndrome is a rare cause of rickets in children. Only six families with Fanconi syndrome following an autosomal dominant pattern of inheritance have been reported. In this report, the results of clinical studies performed in three generations of a family of 39 members with autosomal dominant Fanconi syndrome are presented. Twenty-one members of this family provided blood and urine for biochemical evaluation. Many family members have one or more tubular reabsorptive abnormalities; however, the complete Fanconi syndrome was not present in most members. Three children with the complete syndrome all occur in the last generation. When the characteristic features of this family were compared with those of previously reported families with autosomal dominant Fanconi syndrome, several differences became apparent. Two serious manifestations, diabetes mellitus and renal failure, which occur in previous reports did not occur in this family. This report provides information on apparently the largest number of affected individuals in a single family with Fanconi syndrome. In addition, variable expressivity of tubular reabsorptive defects in a family with Fanconi syndrome has never been reported.
范科尼综合征是儿童佝偻病的罕见病因。仅有6个遵循常染色体显性遗传模式的范科尼综合征家族被报道过。在本报告中，呈现了对一个有39名成员、患有常染色体显性范科尼综合征的家族三代人进行临床研究的结果。该家族的21名成员提供了血液和尿液用于生化评估。许多家族成员有一项或多项肾小管重吸收异常；然而，大多数成员并未出现完全性范科尼综合征。患有完全性综合征的3名儿童均出现在最后一代。当将这个家族的特征与先前报道的患有常染色体显性范科尼综合征的家族特征进行比较时，一些差异变得明显。先前报道中出现的两种严重表现，即糖尿病和肾衰竭，在这个家族中并未出现。本报告提供了关于一个范科尼综合征家族中受影响个体数量显然最多的信息。此外，范科尼综合征家族中肾小管重吸收缺陷的可变表达此前从未被报道过。
