Unusual presentation of a five‐month‐old boy with NaPi2a homozygous mutation without hyperphosphaturia: Case report and review of the literature
- Resource Type
- Authors
- Machiel van den Akker; Asaly Ayman; An Bael; Renata Yakubov; Adi Kremer
- Source
- Clinical Case Reports, Vol 9, Iss 9, Pp n/a-n/a (2021)
Clinical Case Reports
- Subject
- Pediatrics
medicine.medical_specialty
Medicine (General)
business.industry
SLC34A gene
Case Reports
General Medicine
medicine.disease
Hyperphosphaturia
phosphaturia
R5-920
nephrocalcinosis
Mutation (genetic algorithm)
NaPi2a gene
medicine
case report
Medicine
In patient
Hypercalciuria
Human medicine
Nephrocalcinosis
Presentation (obstetrics)
business
hypercalciuria
- Language
- English
- ISSN
- 2050-0904
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.