Abstract: SA-PO0098
Nephronophthisis Due to a Novel DCDC2 Variant in a Patient of African-Caribbean Descent
Session Information
- ADPKD and Cystic Kidney Disease - 3
October 24, 2026 | Location: Exhibit Hall A, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1201 Genetic Diseases of the Kidneys: Cystic (Monogenic)
Author
- Walters, Kimroy S., Milton Cato Memorial Hospital, Kingstown, Saint George, Saint Vincent and the Grenadines
Introduction
Nephronophthisis-19 (NPHP19) due to truncating mutations in the DCDC2 gene has been described previously in only three patients in documented literature. We describe a new case in a patient from the island country of Saint Vincent and the Grenadines, in the West Indies. This disorder is a renal-hepatic ciliopathy with phenotypic characteristics of end stage renal disease, increased kidney echogenicity, bile cholestasis.
Case Description
A 13 year old African-Caribbean female presented to the NYU hospital in July 2025 with childhood onset liver cirrhosis, portal hypertension and esophageal varicies with hemoptysis. Her presentation began just after infancy at the age of 2 years, with studies showing hepatosplenomegaly; gradually her condition progressed to hemoptysis requiring vitamin K infusions.
MRI studies of the liver/abdomen showed cirrhotic morphology of the liver with associated signs of portal hypertension including esophageal varices, splenorenal shunts, recanalized umbilical vein, severe splenomegaly. The patient received a liver transplant and splenectomy in April 2026 and has demonstrated some signs of chronic kidney disease but does not have renal failure, she is currently maintained on an immunosuppressive regimen and is asymptomatic.
Discussion
There were only three published cases of nephronophthisis-19, two of European descent and one of Afro-Caribbean descent, a male born to consanguineous parents from the UK and second, a male without a history of parental consanguinity, of Czech origin who required a liver transplant at the age of two. There was one previous afro-caribbean female who presented with ESRD and liver failure at the age of 13 and required kidney and liver transplants in 2017.
Acknowledgment
We wish to express sincere gratitude the patient and her family for allowing us to use her as a patient write up.
A schematic demonstration of extra renal/hepatic involvement in nephronophthisis-19