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

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ID: 100902
2018
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Abstract
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.
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talati2018primaryurolithiasis Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Talati, Jamsheer Jehangir;Hulton, Sally-Anne;Garrelfs, Sander F;Aziz, Wajahat;Rao, Shoaib;Memon, Amanullah;Nazir, Zafar;Biyabani, Raziuddin;Qazi, Saqib;Azam, Iqbal;Khan, Aysha Habib;Ahmed, Jamil;Jafri, Lena;Zeeshan, Mohammad;
Journal urolithiasis
Year 2018
DOI
10.1007/s00240-017-0996-8
URL
Keywords
end-stage renal disease oxalosis primary hyperoxaluria consanguinity mutation analysis oxalate crystals oxalate stones pakistan origin

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