Unusual presentation of a five‐month‐old boy with NaPi2a homozygous mutation without hyperphosphaturia: Case report and review of the literature

Deletions of the NaPi2a gene and mutations in the SLC34A gene should be considered in patients with atypical presentation, without phosphaturia, with mild hypo to normal phosphatemia, and nephrocalcinosis.

Detalles Bibliográficos
Autores principales: Yakubov, Renata, Ayman, Asaly, Klein Kremer, Adi, Bael, An, van den Akker, Machiel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8435227/
https://www.ncbi.nlm.nih.gov/pubmed/34532044
http://dx.doi.org/10.1002/ccr3.4740
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author Yakubov, Renata
Ayman, Asaly
Klein Kremer, Adi
Bael, An
van den Akker, Machiel
author_facet Yakubov, Renata
Ayman, Asaly
Klein Kremer, Adi
Bael, An
van den Akker, Machiel
author_sort Yakubov, Renata
collection PubMed
description Deletions of the NaPi2a gene and mutations in the SLC34A gene should be considered in patients with atypical presentation, without phosphaturia, with mild hypo to normal phosphatemia, and nephrocalcinosis.
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spelling pubmed-84352272021-09-15 Unusual presentation of a five‐month‐old boy with NaPi2a homozygous mutation without hyperphosphaturia: Case report and review of the literature Yakubov, Renata Ayman, Asaly Klein Kremer, Adi Bael, An van den Akker, Machiel Clin Case Rep Case Reports Deletions of the NaPi2a gene and mutations in the SLC34A gene should be considered in patients with atypical presentation, without phosphaturia, with mild hypo to normal phosphatemia, and nephrocalcinosis. John Wiley and Sons Inc. 2021-09-12 /pmc/articles/PMC8435227/ /pubmed/34532044 http://dx.doi.org/10.1002/ccr3.4740 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Yakubov, Renata
Ayman, Asaly
Klein Kremer, Adi
Bael, An
van den Akker, Machiel
Unusual presentation of a five‐month‐old boy with NaPi2a homozygous mutation without hyperphosphaturia: Case report and review of the literature
title Unusual presentation of a five‐month‐old boy with NaPi2a homozygous mutation without hyperphosphaturia: Case report and review of the literature
title_full Unusual presentation of a five‐month‐old boy with NaPi2a homozygous mutation without hyperphosphaturia: Case report and review of the literature
title_fullStr Unusual presentation of a five‐month‐old boy with NaPi2a homozygous mutation without hyperphosphaturia: Case report and review of the literature
title_full_unstemmed Unusual presentation of a five‐month‐old boy with NaPi2a homozygous mutation without hyperphosphaturia: Case report and review of the literature
title_short Unusual presentation of a five‐month‐old boy with NaPi2a homozygous mutation without hyperphosphaturia: Case report and review of the literature
title_sort unusual presentation of a five‐month‐old boy with napi2a homozygous mutation without hyperphosphaturia: case report and review of the literature
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8435227/
https://www.ncbi.nlm.nih.gov/pubmed/34532044
http://dx.doi.org/10.1002/ccr3.4740
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