Autosomal 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 variable1. The incidence of ARPKD is 1 in 20,000 live births2, 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. Clinical management therefore is ideally directed by multidisciplinary care teams consisting of perinatologists, neonatologists, nephrologists, hepatologists, geneticists, and behavioral specialists to coordinate patient care from the perinatal period to adulthood. In May 2013, an international team of 25 multidisciplinary specialists from the US, Canada, Germany, and the United Kingdom convened in Washington, DC, to review the literature published from 1990 to 2013 and to develop recommendations for diagnosis, surveillance, and clinical management. Identification of the gene PKHD1, and the significant advances in perinatal care, imaging, medical management, and behavioral therapies over the past decade, provide the foundational elements to define diagnostic criteria and establish clinical management guidelines as the first steps towards standardizing the clinical care for ARPKD patients. The key issues discussed included recommendations regarding perinatal interventions, diagnostic criteria, genetic testing, management of renal and biliary-associated morbidities, and behavioral assessment. The meeting was funded by the National Institutes of Health and an educational grant from the Polycystic Kidney Disease Foundation. Here we summarize the discussions and provide an updated set of diagnostic, surveillance, and management recommendations for optimizing the pediatric care of patients with ARPKD. Specialist care of ARPKD-related complications including dialysis, transplantation, and management of severe portal hypertension will be addressed in a subsequent report. Given the paucity of information regarding targeted therapies in ARPKD, this topic was not addressed in this conference.”

The anticipated birth of an extremely low gestational age (<25 weeks) infant presents many difficult questions, and variations in practice continue to exist. Decisions regarding care of periviable infants should ideally be well informed, ethically sound, consistent within medical teams, and consonant with the parents’ wishes. Each health care institution should consider having policies and procedures for antenatal counseling in these situations. Family counseling may be aided by the use of visual materials, which should take into consideration the intellectual, cultural, and other characteristics of the family members. Although general recommendations can guide practice, each situation is unique; thus, decision-making should be individualized. In most cases, the approach should be shared decision-making with the family, guided by considering both the likelihood of death or morbidity and the parents’ desires for their unborn child. If a decision is made not to resuscitate, providing comfort care, encouraging family bonding, and palliative care support are appropriate.

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NCT01088945.

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