Dr Sonya Sharma1, Dr Alok Sharma, Dr Peeyush Sharma, Professor Sharon Ricardo
1Monash University, Oakleigh South , Australia
Background: Immunosuppression treatment plays no role in genetic and developmental kidney diseases. Reporting three different non-immune causes of anasarca and proteinuric kidney diseases and their symptomatic improvement & remission with medications.
Cases: Presenting three cases, all girls, P1, P2, and P3, aged 7, 2 & 1.5 years, weight 50th, 90th, 50-75th centiles and height 75th, 90th, and 50-75th centiles respectively, referred for generalized swelling and proteinuria. They all had serum albumin < 2 gm/dL and normal kidney functions. P1& P3 had 6 weeks, 2mg/Kg of corticosteroids course was prior.
P1 also had partial bilateral elbow extension difficulty since birth but doing all routine work. The family denied genetic and biopsy testing initially. With a clinical diagnosis of steroid-resistant NS, tacrolimus started and remained in remission for two years. Her proteinuria reappeared after stopping tacrolimus. Histopathology done showed FSGS, while genetics revealed LMX1B c.668G>A on exon 4 heterozygous AD mutation.
P2 had gross haematuria too. She responded well to initial corticosteroid therapy. But intermittent proteinuria and episodes of haematuria episodes persisted for the next 3 years. Biopsy suggested features of Alport syndrome. Clinical exome analysis reports COLA 4A5 c.2678-42A>G heterozygous X -linked dominant heterozygous. Both parents were negative for the mutation. Ear and eye examinations were normal.
P3 was referred for biopsy but deferred as ultrasound suggested crossed fused ectopic kidney. DMSA nuclear imaging showed no scaring. During the period of waiting for USG report, she was started on tacrolimus but continued later as she achieved remission. Twice tried tapering and stopping tacrolimus but anasarca reappeared so required to restart therapy again.
Conclusion: More data and studies are required to understand non-immune causes of proteinuria.
Biography:
Bio to come