Recurrent symptomatic urolithiasis in a patient with cystic fibrosis.
Pediatr Nephrol
; 2024 Jun 25.
Article
em En
| MEDLINE
| ID: mdl-38916781
ABSTRACT
A 6-month-old girl, previously diagnosed with cystic fibrosis (CF), was admitted to hospital for nephrolithiasis. Her parents were first-degree cousins. The patient underwent endoscopic stone management. Despite no family history of stones and medical treatment with potassium citrate, the patient developed recurrent renal stones and atypical urinary tract infections during follow-up. Basic investigations were all normal. Due to consanguinity and early presentation of nephrolithiasis, metabolic causes such as cystinuria and hyperoxaluria were considered. Cystinuria was excluded due to normal cystine levels. High urinary oxalate excretion was found as expected due to absorptive (secondary) hyperoxaluria in CF patients. An early stone burden in the patient with a history of medical treatment and consanguinity led us to perform a genetic testing. Genetic testing revealed a missense homozygous variant in exon 1 of the AGXT gene. The patient was diagnosed with primary hyperoxaluria type 1. Two rare life-threatening genetic diseases were found together in the same child.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Pediatr Nephrol
/
Pediatr. nephrol
/
Pediatric nephrology
Assunto da revista:
NEFROLOGIA
/
PEDIATRIA
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Turquia