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- Title
Primary hyperoxaluria and genetic linkages: an insight into the disease burden from Pakistan.
- Authors
Hashmi, Seema; Abid, Aiysha; Sultan, Sajid; Shekhani, Sualeha Siddiq; Lanewala, Ali Asghar; Zafar, Mirza Naqi
- Abstract
Autosomal recessive disorders are prevalent in Pakistan, a developing South Asian country where consanguineous marriages are common. This study seeks to determine the prevalence of monogenic causes in children presenting with nephrocalcinosis and nephrolithiasis at a dialysis and transplant center in Karachi, Pakistan. A retrospective analysis was conducted in children aged 1–18 years presenting with nephrocalcinosis, between 2010 and 2019. Demographic information, clinical profile, laboratory parameters and stone analysis were collected, on a pre-designed questionnaire. One hundred and twenty-six children were included, with 11 and 3 diagnosed with renal tubular acidosis and Bartter's syndrome respectively. Next-generation sequencing and Sanger sequencing was performed on 112 children. Eighty-seven patients were diagnosed with primary hyperoxaluria, with mutations in alanine–glyoxylate-aminotransferase gene found in 73, followed by glyoxylate reductase/hydroxy-pyruvate reductase in 13, and 4-hydroxy-2-oxaloglutarate aldolase in 1. Twenty-five patients reported negative for mutations. Sixty-four percent were males, with a statistically significant difference (p < 0.05). History of parental consanguineous marriage was found in 98% of the cohort. Fifty-four and 40 patients presented to the clinic with Chronic Kidney Disease Stage 1 and Stage 5, respectively, with a statistically significant difference p = 0.007. Mutations noted in our cohort are different and more severe than those reported in the developed world. The disease poses a major disease burden in developing world context with the only treatment option of combined liver–kidney transplantation not available in Pakistan.
- Subjects
PAKISTAN; KARACHI (Pakistan); RENAL tubular transport disorders; CONSANGUINITY; CHRONIC kidney failure; KIDNEY calcification; NUCLEOTIDE sequencing; KIDNEY stones
- Publication
Urolithiasis, 2022, Vol 50, Issue 4, p439
- ISSN
2194-7228
- Publication type
Article
- DOI
10.1007/s00240-022-01338-x