Severe course of autosomal recessive polycystic kidney disease (ARPKD) complicated by end-stage chronic kidney disease, portal hypertension and nosocomial infection in infants

Abstract

Autosomal recessive polycystic kidney disease (ARPKD, MIM 263200) is one of the severe, rare hereditary diseases from the group of fibrocystic diseases of the liver and kidneys. The average frequency in the population is 1:20,000 – 1:40,000 newborns. This pathology has not been previously described in children in Yakutia. The article presents a severe clinical case of a 7-month-old girl with autosomal recessive polycystic kidney disease (ARPKD), diagnosed antenatally. The disease was characterized by an extremely severe course with rapid progression to the end stage of chronic kidney disease (stage 5 CKD), pronounced portal hypertension with hepatosplenomegaly and ascites, as well as a congenital heart defect (atrial septal defect). Against the background of immunosuppressive therapy, the development of uremia and nutritional deficiency, as well as the child’s prolonged stay in the intensive care unit, severe nosocomial complications developed: ventilator associated pneumonia, perforation of the small intestine with diffuse peritonitis, and sepsis. Despite comprehensive therapy, there was a steady progression of multiple organ failure, which led to a fatal outcome. This case illustrates the difficulties in managing patients with ARPKD and the catastrophically high risk of death when infectious complications develop. Managing patients with ARPKD is a complex task that requires a multidisciplinary approach to therapy and necessitates coordination among neonatologists, anesthesiologists, nephrologists, hepatologists, and surgeons. The prognosis for the disease always remains serious, and the child’s survival directly depends on the extent of kidney and liver damage. The described clinical case demonstrates an aggressive, catastrophically rapid course of ARPKD with early development of end stage CKD, severe portal hypertension, and fatal infectious complications.