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Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a complex disorder in need of precision medicine

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Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a complex disorder in need of precision medicine. / Schinke, Thorsten; Oheim, Ralf.

in: KIDNEY INT, Jahrgang 105, Nr. 5, 05.2024, S. 927-929.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › Kommentar › Forschung

Harvard

Schinke, T & Oheim, R 2024, 'Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a complex disorder in need of precision medicine', KIDNEY INT, Jg. 105, Nr. 5, S. 927-929. https://doi.org/10.1016/j.kint.2024.02.006

APA

Schinke, T., & Oheim, R. (2024). Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a complex disorder in need of precision medicine. KIDNEY INT, 105(5), 927-929. https://doi.org/10.1016/j.kint.2024.02.006

Vancouver

Schinke T, Oheim R. Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a complex disorder in need of precision medicine. KIDNEY INT. 2024 Mai;105(5):927-929. https://doi.org/10.1016/j.kint.2024.02.006

Bibtex

@article{77dafaee19db4fd39a239852161ac7c1,
title = "Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a complex disorder in need of precision medicine",
abstract = "Hereditary hypophosphatemic rickets with hypercalciuria is an autosomal recessive phosphate-wasting disorder, associated with kidney and skeletal pathologies, which is caused by pathogenic variants of SLC34A3. In this issue, Zhu et al. describe a pooled analysis of 304 individuals carrying SLC34A3 variants. Their study underscores the complexity of hereditary hypophosphatemic rickets with hypercalciuria, as kidney and bone phenotypes generally do not coexist, heterozygous carriers of SLC34A3 variants also can be affected, and the response to oral phosphate supplementation is dependent on the genetic status.",
keywords = "Humans, Familial Hypophosphatemic Rickets/complications, Hypercalciuria/diagnosis, Precision Medicine, Mutation, Sodium-Phosphate Cotransporter Proteins, Type IIc/genetics, Phosphates",
author = "Thorsten Schinke and Ralf Oheim",
note = "Commentary",
year = "2024",
month = may,
doi = "10.1016/j.kint.2024.02.006",
language = "English",
volume = "105",
pages = "927--929",
journal = "KIDNEY INT",
issn = "0085-2538",
publisher = "NATURE PUBLISHING GROUP",
number = "5",

}

RIS

TY - JOUR

T1 - Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a complex disorder in need of precision medicine

AU - Schinke, Thorsten

AU - Oheim, Ralf

N1 - Commentary

PY - 2024/5

Y1 - 2024/5

N2 - Hereditary hypophosphatemic rickets with hypercalciuria is an autosomal recessive phosphate-wasting disorder, associated with kidney and skeletal pathologies, which is caused by pathogenic variants of SLC34A3. In this issue, Zhu et al. describe a pooled analysis of 304 individuals carrying SLC34A3 variants. Their study underscores the complexity of hereditary hypophosphatemic rickets with hypercalciuria, as kidney and bone phenotypes generally do not coexist, heterozygous carriers of SLC34A3 variants also can be affected, and the response to oral phosphate supplementation is dependent on the genetic status.

AB - Hereditary hypophosphatemic rickets with hypercalciuria is an autosomal recessive phosphate-wasting disorder, associated with kidney and skeletal pathologies, which is caused by pathogenic variants of SLC34A3. In this issue, Zhu et al. describe a pooled analysis of 304 individuals carrying SLC34A3 variants. Their study underscores the complexity of hereditary hypophosphatemic rickets with hypercalciuria, as kidney and bone phenotypes generally do not coexist, heterozygous carriers of SLC34A3 variants also can be affected, and the response to oral phosphate supplementation is dependent on the genetic status.

KW - Humans

KW - Familial Hypophosphatemic Rickets/complications

KW - Hypercalciuria/diagnosis

KW - Precision Medicine

KW - Mutation

KW - Sodium-Phosphate Cotransporter Proteins, Type IIc/genetics

KW - Phosphates

U2 - 10.1016/j.kint.2024.02.006

DO - 10.1016/j.kint.2024.02.006

M3 - Comment/debate

C2 - 38642991

VL - 105

SP - 927

EP - 929

JO - KIDNEY INT

JF - KIDNEY INT

SN - 0085-2538

IS - 5

ER -