engleski

A rare case of polycystic kidney disease and multicystic dysplastic kidney in a pediatric patient

INTRODUCTION: Cystic kidney disease (CyKD) is one of the most important causes of chronic kidney disease (CKD) in children. Multiple kidney cysts can occur unilaterally (e.g. multicystic dysplastic kidney- MCDK) or bilaterally (e.g. autosomal dominant or autosomal recessive polycystic kidney disease) due to genetic or non-genetic (developmental or acquired) disorders. Here we present a rare case of combined polycystic kidney disease (PCKD) and MCDK in a pediatric patient. CASE REPORT: The patient was admitted to our hospital for the first time at the age of two. She was normally developed (weight: 10.8 kg – 19th percentile, height: 90 cm- 80th percentile) with blood pressure (BP) within normal limits. Estimated glomerular filtration rate (eGFR) at that time was 70.2 mL/min with elevated albumin/creatinine ratio 5, 2 mg/mmol and she was diagnosed with G2A2 stage of CKD. During her prenatal period oligohydramnios and polycystic kidneys were detected. At birth a palpable mass of the left abdomen was found. First sonography after birth showed hydronephrosis of the right kidney and multiple cysts on the left kidney. Micturating cystourethrography was negative for vesicoureteral reflux. Initial magnetic resonance imaging (MRI) showed enlargement of both kidneys with multiple cysts of various sizes on the left kidney and lesser number of diffuse renal cysts on the right kidney. Cysts weren’t found neither on the brain nor on the other abdominal organs. Echocardiography was normal. Family history was negative for kidney diseases. The abdominal and kidney ultrasound of both parents and older brother was normal. At the age of two dynamic scintigraphy with Tc-99m revealed unfunctional left kidney leading to diagnosis of MCDK. Follow-up ultrasound showed progressive involution of the MCDK left and multiple very small cysts that generate abnormal parenchymal echogenicity (e.g., „salt-and-pepper sign”) on the right kidney. Functional MRI urography showed nonfunctional MCDK left and functional right kidney with lesser number of small cysts. At the age of four arterial hypertension (130/70 mmHg) was diagnosed and ACE inhibitor was introduced. There were no signs of liver disease. Abdominal ultrasound revealed no cysts of liver, spleen or pancreas. Gynecological ultrasound and ophtalmological examination were also normal. Due to parental disapproval, genetic testing wasn’t performed. CONCLUSION We conclude that, although rare, different types of CyKD can be associated and we should consider it when setting the diagnosis. Due to vast differential diagnosis and overlapping clinical presentations of CyKD genetic testing should be performed whenever possible.

polycystic kidney, multicystic kidney

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