Monogenic nephrolithiasis / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics
;
(24): 667-670, 2020.
Artículo
en Chino
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Tipo de estudio:
Estudio pronóstico
Idioma:
Chino
Revista:
Chinese Journal of Applied Clinical Pediatrics
Año:
2020
Tipo del documento:
Artículo
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