Abstract: PO1284
A Rare Presentation of Autosomal Recessive Polycystic Kidney Disease in Adulthood
Session Information
- Cystic Kidney Disease - II
November 04, 2021 | Location: On-Demand, Virtual Only
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1001 Genetic Diseases of the Kidneys: Cystic
Authors
- Hysi, Katerina, NYU Winthrop Hospital, Mineola, New York, United States
- Sajid, Saira, NYU Winthrop Hospital, Mineola, New York, United States
- Drakakis, James, NYU Winthrop Hospital, Mineola, New York, United States
Introduction
Autosomal recessive polycystic kidney disease (ARPKD) belongs to a group of congenital hepatorenal fibrocystic syndromes and causes significant renal and liver related morbidity and mortality in children. Renal cysts, congenital hepatic fibrosis, and recessive inheritance characterize ARPKD. The disorder usually manifests infancy, with a high mortality rate in the first year of life. For the patient who survives the neonatal period, the probability of being alive at age 15 ranges from 50-80%, with the majority requiring renal replacement therapy at that age. This diagnosis is rarely made in the adult years with the clinical course and prognosis much less well defined.
Case Description
57 year-old male with PMHx of gout and long standing CKD with baseline creatnine 1.8 - 2.0 mg/dL, dating back to 2010 with little progression presented for evaluation. Urinalysis was without microscopic hematuria or proteinuria. Historic imaging showed small kidneys and medical renal disease. An updated MRI noted bilateral kidneys cysts with areas of atrophy and scarring, which along with an increase in GGT and family history of a sister with congential hepatic fibrosis, raised possibility of ARPKD. The patient subsequently underwent whole exome sequencing, which confirmed two pathogenic variants (specifically S3018F and R1624W) in the PKHD1 gene, consistent with ARPKD. His brother was eventually tested as well and found to have the same two variants.
Discussion
The classic presentation for ARPKD is systemic hypertension with progression to ESRD by the age of 15. In a typical presentation, a small number of those with ARPKD live to adulthood with some compromise of kidney function; but with significant liver disease. Due to its wide phenotypic variability, the diagnosis of ARPKD may be made during any stage of childhood; in rare cases, it does not present until adolescence or adulthood. A minority of affected individuals present as older children or young adults with evidence of hepatic dysfunction or otherwise unexplained renal cysts as the prominent presenting feature. This case exhibits reveals the silent menace of ARPKD with a delay in recognition of clinical manifestations and thus an unusually older age at the time of diagnosis.