The Pattern of Primary Hyperoxaluria Type I in Libyan Children at Tripoli Children Hospital, (1998-2018)

الملخص

Primary Hyperoxaluriasare multiple autosomal recessive disorders involving the overproduction of oxalate. Primary
Hyperoxaluria type (1) (PH1) is due to deficiency of alanine glyoxylate aminotransferase which is a hepatic peroxisomal
enzyme, leading to excessive oxalate production, renal stone, nephrocalcinosis, and significant morbidity and mortality.
The study aimed to describe the clinical and epidemiological patterns of PH1 in Libya. The study was descriptive
case series type that included all children who were diagnosed as PH1 at Tripoli Children Hospital from May 1998
to September 2018. PH1 Diagnosis was established on the clinical presentation, positive family history of PH1, and
elevated 24hr urinary oxalate, and the mutation of the AGXT gene. There were 60 children diagnosed as PH1, male
composed of 57% of children. Their age at presentation ranged between 2 months and 10 years with a mean age at
presentation of 3.5±3 years. The parents of 80% of these children had positive consanguinity and 91.7% had a positive
family history. Seventy-five percent of patients were from South West (mountain area), 16(26.6%) of them were from
Yefrin. Of these series 18(30%) presented with renal stones, and 18(30%) discovered by a family screening. The mean
24 hr. urinary oxalate excretion of these patients was 84.4mg %. Five different mutations were found, the most common
mutation was c.731 T>C (P.lle244thr) which was found in 38(84.4%) of children in this study. Interestingly, for those
patients with a c.731T>C (p.lle244thr) gene; 90% from South West (mountain area), and 3(10%) were from other areas
with a high statistical significance (P=0.001). Of these children, there was 63.3% were from Yefrin. PH1 cases seen in
Libyan children are especially clustered in those living in the Western (mountain area) mainly in Yefrin and Jadu. The
most common age at presentation was under 5 years with positive family history. PH1 in Libyan children was most
commonly expressed by the gene mutation c.731 T>C (P.lle244thr), which is plausible given the limited genetic pooling
caused by high consanguinity rates.