X-linked recessive hypophosphatemic rickets

Definition:

X-linked recessive hypophosphatemic rickets (XLRH) is a form of X-linked hypercalciuric nephrolithiasis. Patients present with rickets or osteomalacia, hypophosphatemia, and a reduced renal threshold for phosphate reabsorption. But a number of features were atypical of X-linked dominant hypophosphatemic rickets. For example, they have hypercalciuria, and high levels of 1,25- dihydroxyvitamin D. Mutations in the CLCN5 gene have been reported to be associated with XLRH.

References:

[1]. E Schulze-Bahr, et al. Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous. Hum Genet. 1997 Oct;100(5-6):573-6. [Content Brief]

[2]. S J Scheinman, et al. X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int. 1998 Jan;53(1):3-17. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.