[OXALATE STONES ARE PREVALENT AMONG DRUZE AND MUSLIM ARABS IN THE GALILEE].
Harefuah
; 156(3): 156-162, 2017 Mar.
Article
in He
| MEDLINE
| ID: mdl-28551940
ABSTRACT
INTRODUCTION:
Primary Hyperoxaluria type I (PH1) is a rare autosomal recessive disease caused by lack or dysfunction of the liver peroxisomal enzyme alanine glyoxylate aminotransferase, AGT.AIMS:
To conduct clinical and genetic characterization of Druze and Muslim Arab patients with PH1 in Northern Israel.METHODS:
In the last 20 years, 36 children and families were diagnosed and treated in the Nephrology-Genetic Clinic at the Galilee Medical Center. Clinical evaluation for nephrocalcinosis with/without renal stones, elevated excretion of oxalate and glycolate in urine, and genetic workup were performed. Treatment included hemodialysis, and/or peritoneal dialysis. Some patients were directed to preemptive liver transplantation or to combined liver and kidney transplantation. Genetic counseling and prenatal diagnosis were conducted.RESULTS:
Thirty-six patients, from newborns to adults in their 20's, were diagnosed with PH1. They represent 38.8% of patients in the pediatric-dialysis unit. The genetic variant in the AGXT gene causing their disease was identified. Nine prenatal diagnoses were performed, and a genetic screening program was implemented in four Druze villages in the Galilee and Golan Heights.CONCLUSIONS:
PH1 is a prevalent disease among Druze and Muslim Arabs in northern Israel. Genetic diagnosis is the gold standard and enables early diagnosis and treatment. Genotype-phenotype correlations are complex. Population screening programs provide an important tool for prevention.DISCUSSION:
The "genetic islands" of PH1 in northern Israel require a community-based medical approach for the prevention of the disease and the treatment of presymptomatic patients for better prognosis.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Oxalates
/
Hyperoxaluria, Primary
/
Kidney Calculi
/
Transaminases
Type of study:
Screening_studies
Limits:
Child
/
Humans
Country/Region as subject:
Asia
Language:
He
Journal:
Harefuah
Year:
2017
Document type:
Article
Affiliation country:
Israel