Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference
Reference: Guay-Woodford LM, Bissler JJ, Braun MC, et al. J Pediatr. (2014). doi: 10.1016/j.jpeds.2014.06.015
Core Recommendations:
- Ultrasound imaging is usually sufficient for the postnatal diagnosis of ARPKD with typical clinical features.
- 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.
- Caution must be exercised when predicting the clinical course from the genotype.
- Multidisciplinary prenatal consultation should be arranged in case of prenatal suspicion of ARPKD.
- 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.
- Patients with a presumptive diagnosis of ARPKD should be referred for delivery at a facility with a level IV neonatal intensive care unit.
- 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.
- 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