Gastroenterologie
a hepatologie

Hepatobiliary complications in autosomal recessive polycystic kidney disease

Miroslava Brndiarová¹, Nikola Haláčová¹, Marek Kozár², Michal Demeter ^{Orcid.org  3}, Martin Schnierer ^{Orcid.org  3}, Zuzana Havlíčeková ^{Orcid.org  1}

+ Affiliation
¹ Klinika detí a dorastu, JLF UK a UN Martin
² Neonatologická klinika JLF UK a UN Martin
³ Interná klinika gastroenterologická JLF UK a UN Martin

Summary

Introduction: Autosomal recessive polycystic kidney disease (ARPKD) is a rare, phenotypically variable primary ciliopathy. Kidney and liver damage are typical manifestations, and the prognosis of the disease depends on their progression over time. The main extrarenal manifestation is fibrocystic rebuilding of the liver, which is manifested by intrahepatic portal hypertension and cholangitis. Methods: The aim of the retrospective study was to evaluate the incidence and development hepatobiliary manifestations. Results: Eight children with polycystic autosomal recessive kidney disease were included in the group. Renal damage and hypertension were present in all children. Hepatobiliary manifestations were described in five children (62.5%). Thrombocytopenia preceded splenomegaly by one year. The results also include three case reports. Conclusion: Patients with ARPKD should be examined with a focus on the presence of hepatic manifestations of the disease.

Keywords

autosomal recessive polycystic kidney disease, fibrocystic disorder, esophageal varices, thrombocytopenia

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