SUN-416 DIAGNOSING ALPORT SYNDROME IN RESOURCE LIMITED SETTING-A CASE REPORT

Abstract

Glomerular disease is one of the leading cause of chronic kidney disease. Early detection of glomerular disease is important to lower the CKD burden in the society and associated with better outcome. We will present a case report of diagnosing an Alport Syndrome patient in a Low and Middle Income country –Bangladesh. We studied a 19 year old male whose elder brother died of End Stage Kidney Disease with a clinical diagnosis of Alport Syndrome (AS). This gentleman was found during the screening of family members for AS. He had on and off leg swelling, occasional smoky urine with a normal blood pressure. He gives the history of death of his teenage maternal cousin due to kidney disease. None of the deceased person of the family could reach the Renal Replacement Therapy facility due to financial constraint. His rest of the family members including parents were devoid of features of AS. No history of consanguineous marriage between parents. This gentleman had bedside proteinuria ++, Urine routine examination showed WBC 4-5/HPF, RBC 30-40/HPF, WBC Cast +, RBC cast ++. His Urine Culture and Sensitivity showed No Bacterial Growth. S Creatinine was 1.0 mg/dL and according to CKD EPI formula his eGFR was 97/ml/min/m2.. His Urine for phase contrast microscopy showed 60% dysmorphic RBC. 24 hours urinary total protein was 1.8 gm/24 hours. His Ultrasonography of Whole abdomen revealed no abnormality. Plain Xray KUB was normal. Ophthalmological evaluation revealed anterior lenticonus on both eyes. Pure Tone Audiometry revealed right sided mild sensorineural hearing loss and left sided moderate sensorineural hearing loss. His renal biopsy was done and Light microscopy showed mild mesangial proliferation with one glomerulus showed segmental sclerosis out of 17 glomeruli. Direct Immunofluorescence of renal tissue did not show any immune deposit. Electron Microscopy could not be done due to lack of facility in Bangladesh. Molecular testing for COL4 gene mutation could not be done due to non-availability in Bangladesh. Based on family history and clinical findings this 19 year old gentleman was diagnosed as Alport Syndrome. In spite of lack of resources and facility nephrologists in Bangladesh are trying to diagnose rare diseases like Alport Syndrome. If diagnostic resource is more available, rare renal diseases in Bangladeshi population will be diagnosed more efficiently.