Abstract: FR-PO0917
No Kidneys, No Bladder, No Problem: A Rare Case of Bladder and Complete Renal Agenesis Associated with a GREB1L Variant
Session Information
- Pediatric Nephrology: Genetic Diseases, Development, Neonatal Nephrology, Glomerular Diseases, and More
October 23, 2026 | Location: Exhibit Hall A, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Pediatric Nephrology
- 1800 Pediatric Nephrology
Authors
- Perez, Alexia M., Nicklaus Children's Hospital, Miami, Florida, United States
- Valdes, Kristen, Nicklaus Children's Hospital, Miami, Florida, United States
- Paredes, Ana L., Nicklaus Children's Hospital, Miami, Florida, United States
Introduction
Congenital anomalies of the kidney and urinary tract (CAKUT) account for one-third of congenital anomalies diagnosed on prenatal ultrasound. Complete renal agenesis, is a rare and fatal condition resulting in severe oligohydramnios and pulmonary hypoplasia. Although the etiology is multifactorial, growth regulation by estrogen in breast cancer-like retinoic acid receptor coactivator (GREB1L) is one of 21 genes that may be associated. Few cases of complete renal agenesis have been reported to survive past the prenatal period without dialysis or kidney transplant. We present a case of complete renal and bladder agenesis associated with a GREB1L mutation.
Case Description
5-month-old male born at 36.5 weeks diagnosed prenatally with complete renal and bladder agenesis with severe oligohydramnios. Amnioinfusion was performed biweekly starting at 20 weeks GA. Continuous renal replacement therapy (RRT) was initiated on day 3 of life and transitioned to peritoneal dialysis at 3 months. Global developmental delay and sensorineural hearing loss were consistent with imaging that showed severe brain volume loss with areas of encephalomalacia and porencephaly. Genetic evaluation positive for mutation on the GREB1L gene. Family history significant for sister born preterm and expired hours after birth due to complications of complete renal agenesis. Although RRT was successful with peritoneal dialysis, he developed septic shock and cardiopulmonary arrest at 5 months of life.
Discussion
Complete renal agenesis is one of the most severe anomalies of CAKUT, these patients are dependent on amnioinfusion in utero to promote lung and fetal development. Survival past the prenatal period is dependent on RRT and renal transplant. However, navigating the complications that arise brings forth other challenges. The neurodevelopmental impact of abnormal fetal development and genetic influence plays a significant role in outcomes. While the exact etiology of CAKUT remains elusive, mutations in the GREB1L gene have been associated with congenital anomalies involving the urogenital system and inner ear, leading to sensorineural hearing loss, renal agenesis and other urinary tract malformations. Unlike the documented survivor cases of renal agenesis in the medical literature, our patient was not a candidate for renal transplant given that he had absence of both kidneys, ureters and bladder.