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发展中国家一名患有X连锁低磷性佝偻病患者的PHEX基因突变

PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country.

作者信息

Forero-Delgadillo Jessica María, Cleves Daniela, Ochoa Vanessa, Londoño-Correa Hernando, Restrepo Jaime Manuel, Nastasi-Catanese José Antonio, Pachajoa Harry

机构信息

Pediatric Nephrology Fellow, Universidad Icesi-Fundación Valle de Lili, Cali, Colombia.

Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia.

出版信息

Appl Clin Genet. 2020 Feb 13;13:57-62. doi: 10.2147/TACG.S232448. eCollection 2020.

DOI:10.2147/TACG.S232448
PMID:32104046
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7025672/
Abstract

INTRODUCTION

X-linked hypophosphatemic rickets is part of a larger group of hereditary diseases characterized by renal phosphate loss, which causes growth disorders, rickets, and osteomalacia. These conditions are characterized by disorders in phosphate equilibrium, which is essential for bone formation.

CASE REPORT

A female patient presented with bone deformities of the inferior extremities, prominent joints, and loss of teeth. She received initial management with oral calcium and orthotics in inferior extremities, with poor clinical outcome. PHEX gene sequencing revealed a pathogenic variant c.1601C>T (p.Pro534Leu).

DISCUSSION

XLHR is caused by mutations in the PHEX gene; to date, more than 460 mutations have been associated with the disease. Clinically, it is characterized by bowing of the lower extremities, decreased growth, musculoskeletal complaints, dental abscesses, and other clinical signs and symptoms of rickets.

摘要

引言

X连锁低磷性佝偻病是一大类遗传性疾病的一部分，其特征是肾脏磷酸盐流失，导致生长障碍、佝偻病和骨软化症。这些病症的特点是磷酸盐平衡紊乱，而磷酸盐平衡对骨骼形成至关重要。

病例报告

一名女性患者出现下肢骨骼畸形、关节突出和牙齿脱落。她最初接受了口服钙剂和下肢矫形器治疗，但临床效果不佳。PHEX基因测序显示存在致病性变异c.1601C>T（p.Pro534Leu）。

讨论

XLHR由PHEX基因突变引起；迄今为止，已有超过460种突变与该疾病相关。临床上，其特征为下肢弯曲、生长发育迟缓、肌肉骨骼不适、牙脓肿以及佝偻病的其他临床体征和症状。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/417b/7025672/8934f877ef27/TACG-13-57-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/417b/7025672/83d97359b36e/TACG-13-57-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/417b/7025672/5e73f4a1358e/TACG-13-57-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/417b/7025672/8934f877ef27/TACG-13-57-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/417b/7025672/83d97359b36e/TACG-13-57-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/417b/7025672/5e73f4a1358e/TACG-13-57-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/417b/7025672/8934f877ef27/TACG-13-57-g0003.jpg

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