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Vol 72, No 4 (2021)
Review paper
Submitted: 2021-01-18
Accepted: 2021-02-27
Published online: 2021-06-25
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Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults

Nahid Tavana1, Karuppiah Thilakavathy12, Marina L. Kennerson345, Tzer Hwu Ting6
DOI: 10.5603/EP.a2021.0062
·
Pubmed: 34292571
·
Endokrynol Pol 2021;72(4):366-394.
Affiliations
  1. Department of Biomedical Science, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Selangor, Malaysia
  2. Genetics and Regenerative Medicine Research Group, Faculty Medicine and Health Sciences, Universiti Putra Malaysia, Selangor, Malaysia
  3. Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, NSW, Australia
  4. Sydney Medical School, University of Sydney, Sydney, NSW, Australia
  5. Molecular Medicine Laboratory, Concord Hospital, Concord, NSW, Australia
  6. Department of Paediatrics, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Selangor, Malaysia

open access

Vol 72, No 4 (2021)
Review Article
Submitted: 2021-01-18
Accepted: 2021-02-27
Published online: 2021-06-25

Abstract

Hypophosphataemic rickets (HR) is a genetic disorder causing defects in the renal handling of phosphorus, resulting in rickets. HR can be classified into two groups. First — those with excess fibroblast growth factor 23 (FGF23) levels, which are due to gene mutations in extrarenal factors and include X-linked dominant hypophosphataemic rickets (XLHR), autosomal dominant hypophosphataemic rickets (ADHR), autosomal recessive hypophosphataemic rickets (ARHR), and hypophosphataemic rickets with hyperparathyroidism. Second — those with normal or low FGF23, which are caused by gene mutations in renal tubular phosphate transporters and include hereditary hypophosphataemic rickets with hypercalciuria (HHRH) and X-linked recessive hypophosphataemic rickets. The radiographical changes and clinical features of rickets in various types of HR are similar but not identical. Short stature, bone deformities mainly in the lower limbs, and dental problems are typical characteristics of HR. Although the initial diagnosis of HR is usually based on physical, radiological, and biochemical features, molecular genetic analysis is important to confirm the diagnosis and differentiate the type of HR. In this review, we describe clinical and biochemical features as well as genetic causes of different types of HR. The clinical and biochemical characteristics presented in this review can help in the diagnosis of different types of HR and, therefore, direct genetic analysis to look for the specific gene mutation.

Abstract

Hypophosphataemic rickets (HR) is a genetic disorder causing defects in the renal handling of phosphorus, resulting in rickets. HR can be classified into two groups. First — those with excess fibroblast growth factor 23 (FGF23) levels, which are due to gene mutations in extrarenal factors and include X-linked dominant hypophosphataemic rickets (XLHR), autosomal dominant hypophosphataemic rickets (ADHR), autosomal recessive hypophosphataemic rickets (ARHR), and hypophosphataemic rickets with hyperparathyroidism. Second — those with normal or low FGF23, which are caused by gene mutations in renal tubular phosphate transporters and include hereditary hypophosphataemic rickets with hypercalciuria (HHRH) and X-linked recessive hypophosphataemic rickets. The radiographical changes and clinical features of rickets in various types of HR are similar but not identical. Short stature, bone deformities mainly in the lower limbs, and dental problems are typical characteristics of HR. Although the initial diagnosis of HR is usually based on physical, radiological, and biochemical features, molecular genetic analysis is important to confirm the diagnosis and differentiate the type of HR. In this review, we describe clinical and biochemical features as well as genetic causes of different types of HR. The clinical and biochemical characteristics presented in this review can help in the diagnosis of different types of HR and, therefore, direct genetic analysis to look for the specific gene mutation.

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Keywords

hypophosphatemia; hypophosphataemic rickets; phenotype; PHEX; FGF23; clinical features; mutation; XLHR

About this article
Title

Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults

Journal

Endokrynologia Polska

Issue

Vol 72, No 4 (2021)

Article type

Review paper

Pages

366-394

Published online

2021-06-25

Page views

1525

Article views/downloads

1057

DOI

10.5603/EP.a2021.0062

Pubmed

34292571

Bibliographic record

Endokrynol Pol 2021;72(4):366-394.

Keywords

hypophosphatemia
hypophosphataemic rickets
phenotype
PHEX
FGF23
clinical features
mutation
XLHR

Authors

Nahid Tavana
Karuppiah Thilakavathy
Marina L. Kennerson
Tzer Hwu Ting

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