Kidney Cysts in Hypophosphatemic Rickets With Hypercalciuria: A Case Series.
Case series
HHRH
SLC34A3 gene
hypercalciuria
hypophosphatemic rickets with hypercalciuria
kidney cyst
nephrocalcinosis
urinary stone disease
Journal
Kidney medicine
ISSN: 2590-0595
Titre abrégé: Kidney Med
Pays: United States
ID NLM: 101756300
Informations de publication
Date de publication:
Mar 2022
Mar 2022
Historique:
entrez:
7
4
2022
pubmed:
8
4
2022
medline:
8
4
2022
Statut:
epublish
Résumé
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare monogenic disorder caused by Case series. Medical records from the Mayo Clinic and the Rare Kidney Stone Consortium monogenic stone disease database were queried for patients with a genetically confirmed HHRH diagnosis. The number, sizes, and locations of kidney cysts in each patient were recorded. Twelve patients with Retrospective study, possible selection bias, single-center experience. A strong association between HHRH and kidney cysts was observed. Similarities in the biochemical profiles of HHRH and CYP24A1 deficiency suggest elevated active vitamin D and hypercalciuria may be potential cystogenic factors. Further studies are needed to understand how genetic changes in
Identifiants
pubmed: 35386604
doi: 10.1016/j.xkme.2022.100419
pii: S2590-0595(22)00015-2
pmc: PMC8978140
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100419Subventions
Organisme : NCATS NIH HHS
ID : R21 TR003174
Pays : United States
Informations de copyright
© 2022 The Authors.
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