Primary hyperoxaluria in populations of Pakistan origin: results from a literature review and two major registries

Jamsheer Jehangir Talati, Sally Anne Hulton, Sander F. Garrelfs, Wajahat Aziz, Shoaib Rao, Amanullah Memon, Zafar Nazir, Raziuddin Biyabani, Saqib Qazi, Iqbal Azam, Aysha Habib Khan, Jamil Ahmed, Lena Jafri, Mohammad Zeeshan

Research output: Contribution to journalReview articlepeer-review

18 Citations (Scopus)


Primary hyperoxalurias (PH) are devastating, autosomal recessive diseases causing renal stones. Undifferentiated hyperoxaluria is seen in up to 43% of Pakistani paediatric stone patients. High rates of consanguinity in Pakistan suggest significant local prevalence. There is no detailed information regarding number of cases, clinical features, and genetics in Pakistan-origin (P-o) patients. We reviewed available information on P-o PH patients recorded in the literature as well as from two major PH registries (the Rare Kidney Stone Consortium PH Registry (RKSCPHR) and the OxalEurope PH Registry (OxER); and the Aga Khan University Hospital in Pakistan. After excluding overlaps, we noted 217 P-o PH subjects (42 in OxER and 4 in RKSCPHR). Presentations were protean. Details of mutations were available for 94 patients of 201 who had genetic analyses. Unique mutations were noted. Mutation [c.508G>A (p. Gly170Arg)] (present in up to 25% in the West) was reported in only one case. In one series, only 30% had mutations on exons 1,4,7 of AGXT. Of 42 P-o patients in OxER, 52.4% were PH1, 45.2% PH2, and 2.4% PH3. Of concern is that diagnosis was made after renal transplant rejection (four cases) and on bone-marrow aspiration (in five). Lack of consideration of PH as a diagnosis, late diagnosis, and loss of transplanted kidneys mandates that PH be searched for diligently. Mutation analysis will need to extend to all exons and include PH 1,2,3. There is a need to spread awareness and identify patients through a scoring or screening system that alerts physicians to consider a diagnosis of PH.

Original languageEnglish
Pages (from-to)187-195
Number of pages9
Issue number2
Publication statusPublished - 1 Apr 2018


  • Consanguinity
  • End-stage renal disease
  • Mutation analysis
  • Oxalate crystals
  • Oxalate stones
  • Oxalosis
  • Pakistan origin
  • Primary hyperoxaluria


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