Is withdrawal of nocturnal hyperhydration possible in children with primary hyperoxaluria treated with RNAi?
J Nephrol
; 36(5): 1473-1476, 2023 06.
Article
em En
| MEDLINE
| ID: mdl-37209362
ABSTRACT
Primary hyperoxaluria type 1 is a rare genetic disorder caused by bi-allelic pathogenic variants in the AGXT gene leading to an overproduction of oxalate which accumulates in the kidneys in the form of calcium oxalate crystals. Thus, patients may present with recurrent nephrocalcinosis and lithiasis, with progressive impairment of the renal function and eventually kidney failure. There is no specific treatment besides liver-kidney transplantation, and pre-transplantation management by 24 h-hyperhydration, crystallisation inhibitors and high-dose pyridoxine has a high negative impact on quality of life, especially because of the discomfort due to nocturnal hyperhydration. Since 2020, lumasiran, an RNA-interfering therapy, has been approved for the treatment of primary hyperoxaluria type 1 in adults and children. However, to date, there are no recommendations regarding the discontinuation of other supportive measures during RNAi therapy. In this report, we present two patients with primary hyperoxaluria type 1 who were treated with lumasiran and stopped nocturnal hyperhydration with positive outcomes, i.e. normal urinary oxalate, absence of crystalluria, stable kidney function and improved well-being. These data suggest that discontinuing nocturnal hydration may be safe in children responding to lumasiran, and may have a positive impact on their quality of life. Additional data are needed to update treatment recommendations.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Intoxicação por Água
/
Hiperoxalúria Primária
Tipo de estudo:
Guideline
Limite:
Adult
/
Child
/
Humans
Idioma:
En
Revista:
J Nephrol
Assunto da revista:
NEFROLOGIA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
França