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Fearn, A., Allison, B., Rice, S.J., Edwards, N., Halbritter, J., Bourgeois, S., et al. (2018) Clinical, Biochemical, and Pathophysiological Analysis of SLC34A1 Mutations. Physiological Reports, 6, e13715.
https://doi.org/10.14814/phy2.13715

has been cited by the following article:

• TITLE: Hypophosphatemic Nephrolithiasis/Osteoporosis Type 1 Phenotype—A Novel Npt2a-Encoding SLC34A1 Mutation: A Case Report

  AUTHORS: Reyner Loza, Leonardo Vergara Valverde, Fernando Arias, Víctor Neyra Chagua

  KEYWORDS: Hypophosphatemic Rickets Type 1, Genu Varum, NPT2A

  JOURNAL NAME: Open Journal of Nephrology, Vol.16 No.3, August 10, 2026

  ABSTRACT: We report the case of a 15-year-old female patient presenting with bone deformity characterized by genu varum in the lower extremities since the age of five, with a clinical diagnosis of X-linked hypophosphatemic rickets (XLHR). Laboratory tests revealed hypophosphatemia and a tubular reabsorption of phosphate (TRP) rate of 46 %. The patient was treated with 250 mg of oral potassium phosphate (Kphos)® and 0.25 µg of calcitriol twice daily. Genetic testing to confirm the XLHR diagnosis identified a heterozygous mutation (c.1315_1316delAG) in the SLC34A1 gene, causing arginine substitution at codon 439 with glycine and a frameshift, leading to a premature stop (p. Arg439Glyfs*165). This rare, previously unreported variant is consistent with a hypophosphatemic nephrolithiasis/osteoporosis type 1 (NPHLOP1) phenotype-associated autosomal dominant inheritance pattern. The girl’s progress is favorable; she continues treatment with phosphorus supplements and has also received orthopedic treatment, and she has not developed nephrolithiasis to date.