#6475 AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE WITH COMPLETE SITUS INVERSUS: A CASE REPORT

Abstract Background and Aims Association between complete Situs inversus autosomal polycystic kidney disease is rare. The Medline search revealed only three such cases. We report the fourth one. Recent studies have ciliary dysfunction as a cause of both conditions. Method we case association familial hereditary with situs inversus. Results A 32-year-old patient history stroke was admitted to Nephrology for severe renal failure hypertension. On examination, had blood pressure 160/100mmHg. abdomen soft, bilateral palpable masses irregular surfaces. Neurological examination without abnormalities. test showed creatinemia at 829µmol/L, urea 44mmol/L, correct ionogram, CO2 19 mmol/L, calcemia 1.98mmol/L uric acid 860 µmol/L. 24-hour proteinuria 1.5g. cytobacteriological urine negative. chest X-ray heart. abdominal ultrasound, kidneys were polycystic, liver seen on left spleen right. put antihypertensive treatment calcium channel blocker Purinol. Given clinical biological improvement, discharged close monitoring outpatient clinic possible preparation hemodialysis. In addition, cerebral MRI angiography requested detect damage because family stroke. Conclusion Polycystic caused by mutations in hepatic 1 (PKHD1) gene. Several proteins that are encoded genes associated been identified primary cilia tubular epithelia. These findings suggested abnormalities formation function may play role pathogenesis PKD. Treatment options PKD still being explored but further research can develop solutions increase life expectancy patients diagnosed Cases like this rare could provide more information causes Inversus leading these new solutions.