Abstract: SA-PO0150
When Isolated Proteinuria Isn't Isolated: An Index Case That Triggered a Multigenerational Diagnostic Cascade
Session Information
- Tubular, Metabolic, and Systemic Noncystic Genetic Kidney Diseases
October 24, 2026 | Location: Exhibit Hall A, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Non-Cystic (Complex and Non-Cystic Monogenic)
Authors
- Joseph, Thomas, Loyola Medicine, Maywood, Illinois, United States
- Yousaf, Uzma, Loyola Medicine, Maywood, Illinois, United States
- Vellanki, Kavitha, Loyola Medicine, Maywood, Illinois, United States
Introduction
Fabry disease is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene and may present with subtle renal manifestations. Early recognition is critical, as diagnosis enables disease-specific therapy and identification of affected family members
Case Description
A 49 year old female with no history of diabetes or hypertension was evaluated for persistent proteinuria of 450mg/g present over 5 years. She had preserved renal function and denied edema or urinary symptoms. Family history was notable for a maternal sibling who required dialysis and renal transplantation. Evaluation for secondary causes was unrevealing. Given unexplained proteinuria and suggestive family history,genetic testing was performed. A pathogenic GLA mutation consistent with Fabry disease was identified.This finding prompted cascade genetic testing among family members.Both of the patient's mother and sisters tested positive for the same mutation. Among the next generation, two of the patient's three children and multiple nieces and nephews were found to carry the mutation. Retrospective clinical correlation identified Fabry associated manifestations including dermatologic findings(image 1) in one sister and longstanding unexplained gastrointestinal symptoms in a nephew beginning in adolescence.
Discussion
This case illustrates that Fabry disease may present as isolated proteinuria with preserved kidney function and minimal symptoms,leading to delayed recognition.Genetic testing was pivotal not only in establishing the diagnosis but also in uncovering mutliple affected relatives across generations. The diagnosis enabled continued follow-up,improved disease awareness,and initiation of enzyme replacement therapy(agalsidase beta, Fabrazyme) in the index patient and several family members.