ABSTRACT
Autosomal recessive polycystic kidney disease (ARPKD) is a severe pediatric hepatorenal disorder with pronounced phenotypic variability. A substantial number of patients with early diagnosis reaches adulthood and some patients are not diagnosed until adulthood. Yet, clinical knowledge about adult ARPKD patients is scarce. Here, we describe forty-nine patients with longitudinal follow-up into young adulthood that were identified in the international ARPKD cohort study ARegPKD. Forty-five patients were evaluated in a cross-sectional analysis at a mean age of 21.4 (±3.3) years describing hepatorenal findings. Renal function of native kidneys was within CKD stages 1 to 3 in more than 50% of the patients. Symptoms of hepatic involvement were frequently detected. Fourteen (31%) patients had undergone kidney transplantation and six patients (13%) had undergone liver transplantation or combined liver and kidney transplantation prior to the visit revealing a wide variability of clinical courses. Hepatorenal involvement and preceding complications in other organs were also evaluated in a time-to-event analysis. In summary, we characterize the broad clinical spectrum of young adult ARPKD patients. Importantly, many patients have a stable renal and hepatic situation in young adulthood. ARPKD should also be considered as a differential diagnosis in young adults with fibrocystic hepatorenal disease.
Subject(s)
Kidney/physiopathology , Liver Cirrhosis/etiology , Polycystic Kidney, Autosomal Recessive/complications , Polycystic Kidney, Autosomal Recessive/therapy , Adolescent , Adult , Cross-Sectional Studies , Female , Humans , Kidney Transplantation , Liver/physiopathology , Liver Cirrhosis/physiopathology , Liver Cirrhosis/therapy , Liver Transplantation , Longitudinal Studies , Male , Polycystic Kidney, Autosomal Recessive/physiopathology , Renal Insufficiency, Chronic/etiology , Renal Insufficiency, Chronic/physiopathology , Renal Insufficiency, Chronic/therapy , Young AdultABSTRACT
BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) with congenital hepatic fibrosis (CHF) causes portal hypertension and its complications. A transjugular intrahepatic portosystemic shunt (TIPSS) could serve as a symptomatic treatment for portal hypertension-related symptoms in these children. AIMS: To study the effect of TIPSS on portal hypertension, liver and kidney function and the long term complications. MATERIALS AND METHODS: We report on 5 children with CHF treated with a TIPSS to manage severe portal hypertension related symptoms. RESULTS: Mean follow-up time was 7 years and 2 months. At the end of follow-up there was a reduction of spleen size (pâ¯=â¯0.715) and hypersplenism with a rise in platelet count (pâ¯=â¯0.465). Esophageal varices and ascites disappeared in all patients. Liver and kidney function remained stable. In two patients endotipsitis was suspected and two patients developed an in-stent stenosis. There was no sign of encephalopathy in our patients. CONCLUSION: TIPSS using ePTFE-covered stent is a feasible and effective alternative for surgical portosystemic shunting in children with CHF, also on the long term. It can postpone the need of a liver transplantation but close monitoring remains important for early diagnosis of endotipsitis or stent dysfunction related to stenosis.
