Unusual presentation of a five‐month‐old boy with NaPi2a homozygous mutation without hyperphosphaturia: Case report and review of the literature
Abstract 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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| Format: | Article |
| Language: | English |
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Wiley
2021-09-01
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| Series: | Clinical Case Reports |
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| Online Access: | https://doi.org/10.1002/ccr3.4740 |
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doaj-2d6fb48963c64e3cbb907431d48355a42021-09-27T07:16:16ZengWileyClinical Case Reports2050-09042021-09-0199n/an/a10.1002/ccr3.4740Unusual presentation of a five‐month‐old boy with NaPi2a homozygous mutation without hyperphosphaturia: Case report and review of the literatureRenata Yakubov0Asaly Ayman1Adi Klein Kremer2An Bael3Machiel van den Akker4Department of Pediatrics Hillel Yaffe Medical Center Hadera IsraelDepartment of Pediatrics Hillel Yaffe Medical Center Hadera IsraelDepartment of Pediatrics Hillel Yaffe Medical Center Hadera IsraelDepartment of Pediatrics ZNA Queen Paola Children’s Hospital Antwerp BelgiumDepartment of Pediatrics ZNA Queen Paola Children’s Hospital Antwerp BelgiumAbstract 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.https://doi.org/10.1002/ccr3.4740case reporthypercalciuriaNaPi2a genenephrocalcinosisphosphaturiaSLC34A gene |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Renata Yakubov Asaly Ayman Adi Klein Kremer An Bael Machiel van den Akker |
| spellingShingle |
Renata Yakubov Asaly Ayman Adi Klein Kremer An Bael Machiel van den Akker Unusual presentation of a five‐month‐old boy with NaPi2a homozygous mutation without hyperphosphaturia: Case report and review of the literature Clinical Case Reports case report hypercalciuria NaPi2a gene nephrocalcinosis phosphaturia SLC34A gene |
| author_facet |
Renata Yakubov Asaly Ayman Adi Klein Kremer An Bael Machiel van den Akker |
| author_sort |
Renata Yakubov |
| title |
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_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_sort |
unusual presentation of a five‐month‐old boy with napi2a homozygous mutation without hyperphosphaturia: case report and review of the literature |
| publisher |
Wiley |
| series |
Clinical Case Reports |
| issn |
2050-0904 |
| publishDate |
2021-09-01 |
| description |
Abstract 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. |
| topic |
case report hypercalciuria NaPi2a gene nephrocalcinosis phosphaturia SLC34A gene |
| url |
https://doi.org/10.1002/ccr3.4740 |
| work_keys_str_mv |
AT renatayakubov unusualpresentationofafivemontholdboywithnapi2ahomozygousmutationwithouthyperphosphaturiacasereportandreviewoftheliterature AT asalyayman unusualpresentationofafivemontholdboywithnapi2ahomozygousmutationwithouthyperphosphaturiacasereportandreviewoftheliterature AT adikleinkremer unusualpresentationofafivemontholdboywithnapi2ahomozygousmutationwithouthyperphosphaturiacasereportandreviewoftheliterature AT anbael unusualpresentationofafivemontholdboywithnapi2ahomozygousmutationwithouthyperphosphaturiacasereportandreviewoftheliterature AT machielvandenakker unusualpresentationofafivemontholdboywithnapi2ahomozygousmutationwithouthyperphosphaturiacasereportandreviewoftheliterature |
| _version_ |
1716866995457097728 |