TY - JOUR AU - Serra, Gregorio AU - Corsello, Giovanni AU - Antona, Vincenzo AU - D’Alessandro, Maria Michela AU - Cassata, Nicola AU - Cimador, Marcello AU - Giuffrè, Mario AU - Schierz, Ingrid Anne Mandy AU - Piro, Ettore PY - 2020 DA - 2020/10/15 TI - Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome JO - Italian Journal of Pediatrics SP - 154 VL - 46 IS - 1 AB - Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is one of the most frequent pediatric renal cystic diseases, with an incidence of 1:20,000. It is caused by mutations of the PKHD1 gene, on chromosome 6p12. The clinical spectrum is highly variable, ranging from late-onset milder forms to severe perinatal manifestations. The management of newborns with severe pulmonary insufficiency is challenging, and causes of early death are sepsis or respiratory failure. In cases of massive renal enlargement, early bilateral nephrectomy and peritoneal dialysis may reduce infant mortality. However, there is no conclusive data on the role of surgery, and decision-making is driven by patient’s clinical condition and expertise of the center. SN - 1824-7288 UR - https://doi.org/10.1186/s13052-020-00922-4 DO - 10.1186/s13052-020-00922-4 ID - Serra2020 ER -