Thematic Area: 

Autosomal Recessive Polycystic Kidney Disease

The following guidance document has been adopted based on standardized reviews and are followed in all ERKNet centers: 

Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.  

J Pediatr 2014;165:611-7 

Core Recommendations:

1. Ultrasound imaging is usually sufficient for the postnatal diagnosis of ARPKD with typical clinical features.
2. Genetic testing may facilitate the diagnosis in patients with suspected ARPKD especially as phenocopies have been described, and next generation sequencing methods are more and more available.
3. Caution must be exercised when predicting the clinical course from the genotype.
4. Multidisciplinary prenatal consultation should be arranged in case of prenatal suspicion of ARPKD.
5. Prenatal imaging does not provide a precise prediction for the development of lethal neonatal pulmonary hypoplasia. Early and reliable prenatal diagnosis is only feasible by molecular genetic Analysis.
6. Patients with a presumptive diagnosis of ARPKD should be referred for delivery at a facility with a level IV neonatal intensive care unit.
7. Cholangitis should be considered in any child with ARPKD with unexplained fever. Of note, congenital hepatic fibrosis cholangiopathy with cholangitis may exist despite normal radiologic findings.
8. Hematemesis, hematochezia, and/or melena require immediate medical attention (eg, in an emergency facility with capacity for red blood cell transfusion)

Comments by evaluators:

• This document is not a guideline, but a consensus expert opinion to provide guidance for clinical practice
• Genetic testing is necessary when parents want to opt for preimplantation genetic diagnostics or (early) prenatal diagnostic testing in another pregnancy