Nationwide Turkish Cohort Study of Hypophosphatemic Rickets

ABSTRACT:

Objective

Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect treatment options.

Methods

Here we present nationwide initial and follow-up data on HR.

Results

From 24 centers, 166 patients were included in the study. Genetic analysis (n=75) showed PHEX mutation in 80% of patients. The mean follow-up period was 6.7±2.4 years. During the first 3-years of treatment (n=91), mild increase in phosphate, decrease in alkaline phosphatase and elevation in parathyroid hormone (PTH) levels were detected. The height standard deviation scores were -2.38, -2.77, -2.72, -2.47 at initial, 1^st, 2^nd and 3

SUBMITTER: Sıklar Z 

PROVIDER: S-EPMC7291408 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature