Open AccessUnusual presentation of a five‐month‐old boy with NaPi2a homozygous mutation without hyperphosphaturia: Case report and review of the literature
Author(s) -
Yakubov Renata,
Ayman Asaly,
Klein Kremer Adi,
Bael An,
van den Akker Machiel
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.4740
Subject(s) - medicine , nephrocalcinosis , presentation (obstetrics) , mutation , case presentation , gene mutation , pediatrics , gene , pathology , surgery , genetics , kidney , biology
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.