Tolvaptan treatment for severe neonatal autosomal-dominant polycystic kidney disease

Abstract

Background: Severe neonatal autosomal-dominant polycystic kidney disease (ADPKD) is rare and easily confused with recessive PKD. Managing such infants is difficult and often unsuccessful.

Case diagnosis/treatment: A female infant with massive renal enlargement, respiratory compromise and hyponatraemia was treated with the arginine vasopressin receptor 2 antagonist tolvaptan. This resolved hyponatraemia, and there was no further increase in renal size.

Conclusion: Tolvaptan may be a useful treatment for severe neonatal PKD.

Keywords: Autosomal dominant polycystic kidney disease; Infant; Tolvaptan.

Fig. 1

a Chest radiograph showing distended abdomen and small chest. b Abdominal radiograph showing distended abdomen with bilateral soft tissue masses and central bowel gas, also seen within a right inguinal hernia. c Abdominal ultrasound scan showing extremely enlarged and echobright kidneys with reduced corticomedullary differentiation compressing the inferior vena cava. The right kidney measured 10.2 cm long and the left 10.7 cm. The depth of both kidneys was 5.6 cm and transverse dimension 7.5 cm. At term, mean sonographic renal length was 4.48 ± 0.31 cm. d High-resolution view showing multiple small cysts, three of which are indicated by arrows