Everything you need to know about ARPKD

Abstract

Many of us first learned about autosomal recessive polycystic kidney disease (ARPKD) under the name “infantile polycystic kidney disease,” an unfortunate term. The disease begins at conception and continues after infancy, the lesions are not exactly “cystic,” and the kidney is not the only organ affected.ARPKD is now understood as one of the emerging group of disorders mediated by abnormalities in cilia—the ciliopathies (J Pediatr 2012;160:366-71). The presentation of the disorder can range from severe neonatal disease with irreversible pulmonary failure to the complications of portal hypertension in an adolescent previously thought to be well.Beyond the identification of the molecular basis of ARPKD, there have been a number of advances in genetic diagnosis, perinatal and neonatal management, and recommendations for surveillance of known patients. Until now, it was impossible to find this information clearly summarized in a single resource.The current issue of The Journal features the report of an international workshop. The participants are a virtual “who's who” in the ARPKD field, led by Lisa Guay-Woodford from Children's National Medical Center. The report is presented in a very user-friendly format, and provides clear evidence-based guidelines for the disorder. This report will become a valued reference for nephrologists, hepatologists, perinatologists, neonatologists, geneticists, and the host of other specialists caring for these very complex children.Article page 611 Many of us first learned about autosomal recessive polycystic kidney disease (ARPKD) under the name “infantile polycystic kidney disease,” an unfortunate term. The disease begins at conception and continues after infancy, the lesions are not exactly “cystic,” and the kidney is not the only organ affected. ARPKD is now understood as one of the emerging group of disorders mediated by abnormalities in cilia—the ciliopathies (J Pediatr 2012;160:366-71). The presentation of the disorder can range from severe neonatal disease with irreversible pulmonary failure to the complications of portal hypertension in an adolescent previously thought to be well. Beyond the identification of the molecular basis of ARPKD, there have been a number of advances in genetic diagnosis, perinatal and neonatal management, and recommendations for surveillance of known patients. Until now, it was impossible to find this information clearly summarized in a single resource. The current issue of The Journal features the report of an international workshop. The participants are a virtual “who's who” in the ARPKD field, led by Lisa Guay-Woodford from Children's National Medical Center. The report is presented in a very user-friendly format, and provides clear evidence-based guidelines for the disorder. This report will become a valued reference for nephrologists, hepatologists, perinatologists, neonatologists, geneticists, and the host of other specialists caring for these very complex children. Article page 611 Consensus Expert Recommendations for the Diagnosis and Management of Autosomal Recessive Polycystic Kidney Disease: Report of an International ConferenceThe Journal of PediatricsVol. 165Issue 3PreviewAutosomal-recessive polycystic kidney disease (ARPKD; MIM 263200 ) is a severe, typically early-onset form of cystic disease that primarily involves the kidneys and biliary tract. Phenotypic expression and age at presentation can be quite variable.1 The incidence of ARPKD is 1 in 20 000 live births,2 and its pleotropic manifestations are potentially life-threatening. Optimal care requires proper surveillance to limit morbidity and mortality, knowledgeable approaches to diagnosis and treatment, and informed strategies to optimize quality of life. Full-Text PDF