Study on Rare Metabolic Disorder (Primary Hyperoxaluria Type 1) among Children: Perspectives to Genotyping and Outcome

Background: Primary hyperoxaluria is an uncommon metabolic condition that is inherited as an autosomal recessive trait. It is caused by AGXT gene mutations, which are more common in underdeveloped nations due to increased consanguinity rates. The clinical characteristics, type of AGXT mutation, and outcome in children diagnosed with PH1 at a tertiary referral centre in Oman were studied to identify the clinical characteristics, type of AGXT mutation, and outcome in children diagnosed with PH1 at a tertiary referral hospital in Oman.

Method: Between 2000 and 2013, a retrospective review of children diagnosed with PH1 at a tertiary hospital in Oman was conducted.

There were a total of 18 children found. With a median age of 7 months, females made up 61 percent of the youngsters. In 39 percent of cases, severe renal failure was the first symptom, while 22 percent had nephrocalcinosis and/or renal calculi. Family screening identified 39% of cases. Hemodialysis was performed on 50% of the children. Organ transplantation was performed on 28% of children. The c.33-34insC variant in the AGXT gene was the most prevalent mutation discovered in Omani children.

Conclusion: PH1 is a prevalent cause of ESRD in Omani children due to consanguinity. Genetic testing is recommended to aid in family counselling and to reduce illness incidence and burden; it can also be used for premarital screening. This is the first report from Oman and the Gulf region, and it emphasises the large illness burden caused by an autosomal recessive mutation, as well as the necessity of family screening and genetic counselling.

Author (S) Details

Mohamed S. Al Riyami
Pediatric Nephrology Unit, Department of Child Health, Royal Hospital, P.O.Box 1331, 111 Muscat, Oman.

Badria Al Ghaithi
Pediatric Nephrology Unit, Department of Child Health, Royal Hospital, P.O.Box 1331, 111 Muscat, Oman.

Nadia Al Hashmi
Metabolic and Genetic UNIT, Department of Child Health, Royal Hospital, P.O.Box 1331, 111 Muscat, Oman.

Naifain Al Kalbani
Pediatric Nephrology Unit, Department of Child Health, Royal Hospital, P.O.Box 1331, 111 Muscat, Oman.

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