Article

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome

2020-09-18

Abstract excerpt

<title>Abstract</title> <p><bold>Introduction: </bold>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 newbor...

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Literature Corpus work: 1762af0c-1f23-5d21-9609-50b114ec60bd
DOI: 10.21203/rs.3.rs-48561/v2

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