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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\u3eA (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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Objectives To assess, in patients undergoing extracorporeal shock wave lithotripsy (ESWL), if a policy of using unilateral X‐rays of the kidney, ureter and bladder (hemi‐KUB) whenever possible and appropriate during diagnosis and follow‐up, was successful in reducing the radiation exposure associated with ESWL. Patients and methods Two groups of patients of statistically comparable size and demography were assessed retrospectively before and after the implementation of the policy. All had undergone ESWL for radio‐opaque upper urinary tract stones and all were finally rendered stone‐free. The number and type of all radiological procedures from initial diagnosis of the stone to documented stone‐free status were recorded and the dose calculated. Results The appropriate use of hemi‐KUB X‐rays resulted in a significant mean reduction of radiation exposure after treatment of 2.28 mSv per patient (P < 0.05). Furthermore, as expected, the radiation dose was clearly but not closely correlated with stone size (r = 0.419). Conclusions The appropriate use of hemi‐KUB X‐rays during the follow‐up after ESWL is a simple and effective way of significantly reducing the radiation exposure of such patients.