Autosomal Recessive Polycystic Kidney Disease: Clinical Features

Autosomal Recessive Polycystic Kidney Disease (ARPKD) - Clinical Features: ARPKD affects both kidneys and liver and shows a spectrum of severity. There is severe renal disease with mild liver disease at one end of the spectrum (generally seen in the neonatal period) caused by truncating mutations in the PKHD1 gene. At the other end of the clinical spectrum, there is mild renal disease with severe liver disease (usually in older children and adolescents). Accordingly, ARPKD has been subclassified into perinatal, neonatal, infantile, and juvenile forms that vary in severity and degree of cyst formation. However, it is often challenging to assign a patient into a given category.

Severely affected patients present at birth with distended abdomen (as seen here) due to massive, symmetrical enlargement of both kidneys in utero. Large kidneys may interfere with delivery. Image Credit: Bergmann C (2018) Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses. Front. Pediatr. 5:221 doi: 10.3389/fped.2017.00221; image cropped from the original and used under Creative Commons Attribution License (CC BY).