Abstract: SA-PO766
Phenotypic Variabilities of Neonatal Autosomal Recessive Polycystic Kidney Disease
Session Information
- Genetic Diseases: Cystic - Genetic Analysis and Extrarenal Manifestations
November 04, 2023 | Location: Exhibit Hall, Pennsylvania Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1201 Genetic Diseases of the Kidneys: Cystic
Authors
- Khin, Ei E., Texas Tech University Health Sciences Center El Paso Paul L Foster School of Medicine, El Paso, Texas, United States
- Ramdas, Divya, Texas Tech University Health Sciences Center El Paso Paul L Foster School of Medicine, El Paso, Texas, United States
- Rodriguez, Javier Eduardo, Texas Tech University Health Sciences Center El Paso Paul L Foster School of Medicine, El Paso, Texas, United States
Introduction
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is caused by a mutation in the PKHD1 gene and is an inherited cause of chronic kidney disease in children. The most typical presentations in neonates are a history of oligohydramnios, massively enlarged kidneys, and the Potter sequence with pulmonary hypoplasia that can lead to respiratory insufficiency and perinatal death. Extra-renal manifestations include congenital hepatic fibrosis, cholangitis, and portal hypertension. A subset of ARPKD patients can have a predominant liver phenotype.
Case Description
We report the variable clinical manifestations of three cases of neonatal ARPKD.
Case 1 is the male neonate with enlarged ventricles in the brain, atypical extra-renal manifestation, and confirmed the diagnosis by genetic testing. Although he did not require renal replacement therapy in the neonatal period, he developed severe hypertension at 3 months. Case 2 was born with a history of oligohydramnios and required ventilator support for 3 days. His neonatal course was unremarkable and developed hypertension at 8 weeks of life. He received a renal transplant at 4 years of age. Case 3 is a full-term neonate who developed pulmonary hypoplasia, was on a high-frequency ventilator at birth, and required initiation of dialysis and nephrectomies in the neonatal period. Clinical and laboratory findings of cases are shown in Table 1.
Discussion
It should be aware of variable presentations of ARPKD cases and some may require aggressive management of nephrectomies and dialysis in the neonatal period. Due to its multi-system effects, a multidisciplinary team of nephrologists, gastroenterologists, surgeons, and neonatologists help families of patients make informed treatment decisions.
Fig 1. Clinical and laboratory findings of 3 neonatal ARPKD cases