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

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.

Metanephric adenoma: a rare benign renal tumour.

Metanephric adenoma is a rare benign renal tumour. We are reporting one histologically proven such case in a 23 year old male from Afghanistan. He presented with severe right flank pain since 3 weeks. Nephrectomy was done and histopathology was consistent with the diagnosis of metanephric adenoma. This novel renal mass has been reported to have benign clinical course despite its symptomatic presentation and large tumour size. There is no distinguishing radiological feature with can differentiate it from malignant tumours. So far, a uniformly benign clinical course has been associated with Metanephric adenoma, but given its relatively recent identification and rarity and the lack of clinical, radiographic, or cytologic means to establish a definite diagnosis, Metanephric adenoma remains primarily a pathologic diagnosis.