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

Abstract

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