Case Report on Chronic Kidney disease with Bardet-Biedl Syndrome
Author(s): Payal Bawankar*, Ruchira Ankar
Background: Mutations in proteins present in the main basal body complex cause Bardet–Biedl syndrome, an autosomal recessive multiorgan disorder. The incidence of the syndrome is estimated to be 1 in every 160,000 people. Only about 15 cases have been reported in India. Clinical Findings: Breathlessness, pedal edema. Diagnostic Evaluation: Blood test: Hb- 8.2gm%, Total RBC count–2.82 millions/cu mm, HCT–24.4%, Total WBC count–8400/cu mm; KFT: Urea–88mg%, Creatinine–4.2 mg%, Potassium–5.4meq/l; LFT: ALT(SGPT)-75IU/l, ALT(SGOT)-32IU/l, Total Bilirubin-0.9mg% Ultrasonography abdomen & pelvis: There is mild to moderate fluid collection in peritoneal cavity & laceration on right lobe of liver; 2D Echo showed Mild left ventricular hypertrophy Therapeutic intervention: Haemodialysis, Blood transfusion, Antibiotics, Fluid & Electrolyte Outcome: After treatment, patient show improvement. His Breathlessness and pedal edema were relieved and his Hb% increased from 8.2gm% to Total Bilirubin become normal. Conclusion: This patient was admitted to MICU, AVBRH with a known case of CKD with Bardet Biedl syndrome and he had complaint of breathlessness and pedal edema. After getting appropriate treatment his condition was improved.