Situs inversus totalis and autosomal recessive polycystic kidney disease occur with an incidence of 1/10000 in the general population(1) and 1 in 20,000 live births, respectively.  Association of the two conditions is rare; a medline search revealed only two such cases(2,3). Recent studies have revealed ciliary dysfunction as a cause of both conditions(4,5).

A 10-month-old boy (birthweight 1650 g), born of nonconsanguineous parents, was admitted with history of abdominal distension since birth and fever of 10 days duration. The baby was delivered at 34 weeks of gestation by induction of labor due to severe oligohydramnios. The postnatal period was unevent-ful.  On examination, he was alert, with stable vital signs except for a blood pressure of 140/90 mm Hg. There were no dysmorphic features or limb anomalies. Abdomen was distended, with bilateral renal masses. Liver was palpable 2 cm below the left costal margin. Cardiovascular examination suggested the heart to be on the right side. Ophthalmic fundus was normal. 

Hemoglobin, total and differential leucocyte count and platelet count were normal. Blood urea was 18 mg/dL, serum creatinine 0.7 mg/dL and alanine aminotransferase 30U/L. Urine culture revealed significant growth of E.coli. Ultrasonogram revealed bilateral enlarged kidneys (right 10.3 × 4.8 × 4.8 cm; left: 9.8×4.7×4.9 cm). Kidneys  revealed diffuse increase in parenchymal echogenicity and loss of corticomedullary differentiation suggestive of poly-cystic kidney disease. There were a few sparsely distributed micro cysts of 3-6 mm. The calyceal systems and ureters were undilated.  Bladder showed normal wall and mucosa. There was no residual urine. A normal liver was imaged on the left side and sonographically looking normal spleen on the right side.   No free fluid was noted in the abdomen.  

An X-ray chest and abdomen confirmed situs inversus with dextrocardia. ECG suggested mirror image dextrocardia. Echocardiogram ruled out structural anomalies of heart. Ultrasonogram of the parents did not reveal renal cysts.  The baby was treated with parenteral antibiotics for urinary tract infection and hypertension was controlled with enalapril. A micturating cystourethrogram done later revealed no vesicoureteric reflux.

Autosomal recessive 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. Kif3, a protein on chromosome 5 is required for the maintenance of primary cilia and the loss of cilia in the kidney produces renal cysts(4). Studies in mice with mutation involving disruption of cilia structure (Tg737, Kif3a, and Kif3b) or function (Pkd2) have demonstrated the connection between situs determination and cilia(5). These studies have shown the role of embryonic cilia in establishing left-right axis determination. The present case illustrates the unusual association of two cilia related diseases.

M P Jayakrishnan
E Devarajan*,
      Department of Pediatrics and Radiodiagnosis*,
      Institute of Maternal and Child Health,
      Government Medical College, Calicut,
      Kerala, India.
      E-mail: [email protected]