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Article

Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene.

Journal of the American Society of Nephrology : JASN - 1 Mar 2001

Jones Andrew O, Tzenova Jordana, Frappier Danielle, Crumley M Joyce, Roslin Nicole M, Kos Claudine H, Tieder Martin, Langman Craig B, Proesmans Willem, Carpenter Thomas O, Rice Allan, Anderson Donald, Morgan Kenneth, Fujiwara T Mary, Tenenhouse Harriet S

Abstract excerpt

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a renal phosphate (Pi) wasting disease first described in an extended Bedouin kindred, is characterized by hypophosphatemia, elevated serum 1,25-dihydroxyvitamin D levels, hypercalciuria, rickets, and osteomalacia. Correction of all abnormalities, except for renal Pi wasting, can be achieved by oral Pi supplementation. These findings and the...

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Identifiers

PMID: 11181798
DOI: 10.1681/ASN.V123507

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene.PMID 11181798Read ↗

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Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.Semantic proximity Read ↗

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