High prevalence of CFHR deletions in Indian women with pregnancy-associated hemolytic uremic syndrome.

AIM: Pregnancy-associated hemolytic uremic syndrome (P-aHUS) is an important cause of peripartum acute kidney injury. Studies from Europe have described mutations in complement regulator genes, and data in Indian patients is scarce. Hence this study used multiplex ligation-dependent probe amplification (MLPA) to identify variants in complement genes in P-aHUS patients. METHODS: We present 17 patients of P-aHUS who were investigated for complement protein levels and genetic analysis with MLPA for complement genes. Plasma exchange therapy was offered to all patients presenting in acute phase. RESULTS: Mean age 26.74 (3.36) years with 15/17 delivered by caesarean section. Eleven patients received early (within 7 days) plasma exchange, three were dialysis-dependent at 3 months and seven were dialysis-free. Only one of the three patients receiving late (after 7 days) plasma exchange was dialysis-free. MLPA showed that 11 patients had heterozygous deletions of exons 3, 5, 6 of CFHR1 and upstream region of exons 1, 2, 3, 6 and intron 4 of CFHR3 gene while four patients had homozygous deletions at the same loci. Two patients had no MLPA-detectable variations. CONCLUSION: This study reports a high proportion of deletions of exons of CFHR1 & CFHR3 genes in Indian P-aHUS patients detectable by MLPA by copy number variations. This needs confirmation in large multicentre studies. Plasma exchange can be an effective therapy in the non-availability of Eculizumab.

Chyluria Associated With Nephrotic-Range Proteinuria.

Chyluria is the presence of chyle in the urine and is associated with some degree of proteinuria. We report two patients with chyluria who presented with milky urine, weight loss, and edema and were found to have nephrotic-range proteinuria. Although filarial antigen was detected in only one of the patients, flexible cystoscopy could demonstrate chyle efflux from the left ureter in first patient and from both the ureters in the second patient. Both patients received endoscopic sclerotherapy with 0.2% povidone-iodine, which resulted in the clearance of milky urine in three to five days and complete resolution of nephrotic-range proteinuria on follow-up. They remained symptom-free until the six-month follow-up. We deferred renal biopsy in both patients, as proteinuria was confirmed to be non-glomerular in origin.