Monogenic nephrolithiasis / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics
;
(24): 667-670, 2020.
Article
Dans Chinois
| WPRIM
| ID: wpr-864081
ABSTRACT
In recent years, multiple monogenic causes of nephrolithiasis have been identified.Monogenic nephrolithiasis can lead to renal calculus, nephrocalcinosis, extrarenal manifestations, renal insufficiency and renal failure.Advances in genetic testing techniques have improved the ability to obtain a definitive diagnosis of monogenic causes of kidney stone diseases efficiently and effectively.Similarly, advances in gene therapy technologies, especially gene editing, promise to change the way to treat patients with monogenic inherited nephrolithiasis.Now, the classification, cha-racteristics of genotype and phenotype, and the treatment of monogenic causes of nephrolithiasis were reviewed.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Type d'étude:
Étude pronostique
langue:
Chinois
Texte intégral:
Chinese Journal of Applied Clinical Pediatrics
Année:
2020
Type:
Article
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