HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients.
J Clin Lab Anal
; 31(3)2017 May.
Article
en En
| MEDLINE
| ID: mdl-27561601
ABSTRACT
BACKGROUND:
Primary hyperoxaluria type 3 (PH3) is due to mutations in the recently identified 4-hydroxy-2-oxoglutarate aldolase (HOGA1) gene. PH3 might be the least severe form with a milder phenotype with good preservation of kidney function in most patients. The aim of this study was to report three PH3 cases carrying mutations in HOGA1. MATERIALS ANDMETHODS:
Genetic analysis of HOGA1 was performed in patients with a high clinical suspicion of PH after sequencing of AGXT and GRHPR genes, which was negative. Also, a complete AGXT/GRHPR MLPA was performed in these patients in order to detect large deletions/insertions. RESULTS ANDDISCUSSION:
Two different HOGA1 gene mutations were identified the p.Pro190Leu in a homozygous state and the p.Gly287Val in two patients in homozygous and heterozygous carriers. The median age at onset of clinical symptoms was 3.93 years. Most of the patients had a positive family history for recurrent urolithiasis. The p.Pro190Leu mutation was reported with impaired renal function at follow-up; however, the p.Gly287Val was presented with normal renal function. All patients were presented with urolithiasis, but only one had a nephrocalcinosis.CONCLUSION:
This study expanded the number of PH3 patients from 63 to 66 cases. The p.Pro190Leu and the p.Gly287Val mutations found in this study can provide a first-line investigation in Tunisian PH1 patients.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Hiperoxaluria Primaria
/
Oxo-Ácido-Liasas
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
País/Región como asunto:
Africa
Idioma:
En
Revista:
J Clin Lab Anal
Asunto de la revista:
TECNICAS E PROCEDIMENTOS DE LABORATORIO
Año:
2017
Tipo del documento:
Article
País de afiliación:
Túnez