Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a complex disorder in need of precision medicine.
Kidney Int
; 105(5): 927-929, 2024 May.
Article
em En
| MEDLINE
| ID: mdl-38642991
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Raquitismo Hipofosfatêmico Familiar
Limite:
Humans
Idioma:
En
Revista:
Kidney Int
/
Kidney int
/
Kidney international
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Alemanha