Hypophosphatemic Rickets in Siblings: A Rare Case Report

Hypophosphatemic Rickets in Siblings: A Rare Case Report

Hypophosphatemic rickets (HR) is a type of hereditary rickets characterized by persistent hypophosphatemia and hyperphosphaturia. The most predominant type is inherited in an X-linked fashion and caused by mutation in the gene encoding the phosphate-regulating endopeptidase homolog, X-linked (PHEX),...

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Main Authors: Sarat, Gummadapu, Priyanka, Nuthalapati, Prabhat, Meka Purna Venkata, Raja Lakshmi, Chintamaneni, Bhavana, Sujana Mulk, Ayesha Thabusum, Dharmavaram
Format: Online
Language:English
Published: Hindawi Publishing Corporation 2016
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4906197/
id pubmed-4906197
recordtype oai_dc
spelling pubmed-49061972016-06-23 Hypophosphatemic Rickets in Siblings: A Rare Case Report Sarat, Gummadapu Priyanka, Nuthalapati Prabhat, Meka Purna Venkata Raja Lakshmi, Chintamaneni Bhavana, Sujana Mulk Ayesha Thabusum, Dharmavaram Case Report Hypophosphatemic rickets (HR) is a type of hereditary rickets characterized by persistent hypophosphatemia and hyperphosphaturia. The most predominant type is inherited in an X-linked fashion and caused by mutation in the gene encoding the phosphate-regulating endopeptidase homolog, X-linked (PHEX), identified in 1995. The X-linked hypophosphatemic (XLH) rickets is a rare hereditary metabolic disorder with a prevalence of 1 in 20,000 and causes deficient calcification of mineralized structures such as bones and teeth resulting in dental problems in terms of delayed eruption, spontaneous periapical infections, and exfoliation. We report one such unique case of hypophosphatemic vitamin D-resistant rickets in siblings exhibiting classical features of rickets with emphasis on its treatment and dental considerations. Hindawi Publishing Corporation 2016 2016-05-31 /pmc/articles/PMC4906197/ /pubmed/27340574 http://dx.doi.org/10.1155/2016/4803167 Text en Copyright © 2016 Gummadapu Sarat et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
repository_type Open Access Journal
institution_category Foreign Institution
institution US National Center for Biotechnology Information
building NCBI PubMed
collection Online Access
language English
format Online
author Sarat, Gummadapu
Priyanka, Nuthalapati
Prabhat, Meka Purna Venkata
Raja Lakshmi, Chintamaneni
Bhavana, Sujana Mulk
Ayesha Thabusum, Dharmavaram
spellingShingle Sarat, Gummadapu
Priyanka, Nuthalapati
Prabhat, Meka Purna Venkata
Raja Lakshmi, Chintamaneni
Bhavana, Sujana Mulk
Ayesha Thabusum, Dharmavaram
Hypophosphatemic Rickets in Siblings: A Rare Case Report
author_facet Sarat, Gummadapu
Priyanka, Nuthalapati
Prabhat, Meka Purna Venkata
Raja Lakshmi, Chintamaneni
Bhavana, Sujana Mulk
Ayesha Thabusum, Dharmavaram
author_sort Sarat, Gummadapu
title Hypophosphatemic Rickets in Siblings: A Rare Case Report
title_short Hypophosphatemic Rickets in Siblings: A Rare Case Report
title_full Hypophosphatemic Rickets in Siblings: A Rare Case Report
title_fullStr Hypophosphatemic Rickets in Siblings: A Rare Case Report
title_full_unstemmed Hypophosphatemic Rickets in Siblings: A Rare Case Report
title_sort hypophosphatemic rickets in siblings: a rare case report
description Hypophosphatemic rickets (HR) is a type of hereditary rickets characterized by persistent hypophosphatemia and hyperphosphaturia. The most predominant type is inherited in an X-linked fashion and caused by mutation in the gene encoding the phosphate-regulating endopeptidase homolog, X-linked (PHEX), identified in 1995. The X-linked hypophosphatemic (XLH) rickets is a rare hereditary metabolic disorder with a prevalence of 1 in 20,000 and causes deficient calcification of mineralized structures such as bones and teeth resulting in dental problems in terms of delayed eruption, spontaneous periapical infections, and exfoliation. We report one such unique case of hypophosphatemic vitamin D-resistant rickets in siblings exhibiting classical features of rickets with emphasis on its treatment and dental considerations.
publisher Hindawi Publishing Corporation
publishDate 2016
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4906197/
_version_ 1613594076725116928

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