Abstract: SA-PO608
Cerebral Aneurysm in an Adult with Autosomal Recessive Polycystic Kidney Disease (ARPKD)
Session Information
- Cystic Kidney Diseases: Genetic Causes, Modifiers, and Extrarenal Manifestations
October 26, 2024 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1201 Genetic Diseases of the Kidneys: Cystic
Authors
- Onder, Songul, University of Maryland School of Medicine, Baltimore, Maryland, United States
- Watnick, Terry J., University of Maryland School of Medicine, Baltimore, Maryland, United States
Introduction
Intracranial aneurysms (ICA) are seen in 8-12 % of patients with autosomal dominant polycystic kidney disease (ADPKD). There are only a few case reports of ICA in autosomal recessive polycystic kidney disease (ARPKD) published to date.
Case Description
We present a 24-year-old woman with a genetic diagnosis of ARPKD. Abdominal MRI showed normal liver. The left kidney volume was 254.3 cc and the right kidney volume was 242.8 cc. She presented with chronic kidney disease stage 4 with eGFR of 22 ml/min. There was no family history of ADPKD or ICA. Her mother was with history of post traumatic subarachnoid hemorrhage (SAH). Due to intermittent headaches and family history of SAH, MRA of head was performed as part of kidney transplant evaluation. MRA revealed a 6 mmx5 mm unruptured ICA. aneurysm. She underwent to microsurgical clip reconstruction of unruptured anterior circulation aneurysm. Due to the negative family history of ADPKD and relatively small kidney size in the setting of advanced CKD, a whole exome panel genetic testing done. There were two heterozygous missense variants in the PKHD1 gene.
Discussion
There are only a few cases with ARPKD and ICA reported within the last decade. To our knowledge, this is the 8th reported case of ICA with ARPKD. Previously reported cases presented with aneurysm rupture or were diagnosed during the investigation of neurologic symptoms. In addition, there have been two cases of extracranial aneurysm reported in ARPKD. Although most experts agree that ADPKD patients with a family history of ICA should undergo MRA screening, there are no recommendations for individuals with ARPKD. Taken together these cases suggest that there may be a link between ARPKD and vascular aneurysms that may warrant additional investigation. Screening patients for ICA in ARPKD should be considered in appropriate settings.
MRI of Abdomen