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Understanding Autosomal Recessive PKD by Perla Osorio is a document available to read on EtoBox.

Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder with a high incidence of morbidity and mortality, particularly when diagnosed prenatally. It is characterized by biallelic pathogenic variants in the PKHD1 gene, leading to kidney enlargement and associated complications such as oligohydramnios. Prenatal diagnosis and management options are critical due to the poor prognosis associated with ARPKD, especially in cases identified early in pregnancy.

Author

Perla Osorio

Language

EN