X连锁低磷血症。遗传与临床关联

X-linked hypophosphatemia. Genetic and clinical correlates.

作者信息

Hanna J D, Niimi K, Chan J C

机构信息

Department of Pediatrics, Virginia Commonwealth University's Medical College of Virginia, Richmond.

出版信息

Am J Dis Child. 1991 Aug;145(8):865-70. doi: 10.1001/archpedi.1991.02160080041018.

DOI:10.1001/archpedi.1991.02160080041018

PMID:1858722

Abstract

X-linked hypophosphatemia is a hereditary form of rickets that results from an isolated renal tubular wasting of phosphate. The clinical features unique to this disorder, and the recent advances in our understanding of vitamin D metabolism and molecular genetics in X-linked hypophosphatemia are reviewed. Finally, a succinct critique of the controversial treatment modalities round up this review.

摘要

X连锁低磷血症是一种遗传性佝偻病，由孤立的肾小管磷酸盐流失引起。本文综述了该疾病独特的临床特征，以及我们对X连锁低磷血症中维生素D代谢和分子遗传学理解的最新进展。最后，对有争议的治疗方式进行了简要评析，总结了这篇综述。