Abstract: SA-PO0131
Renal Involvement in Ciliopathies: A Case of Senior-Loken Syndrome Type 5 Progressing to ESRD
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)
Authors
- Irfan, Babar, SUNY Upstate Medical University, Syracuse, New York, United States
- Alqudah, Zain Mohamad, SUNY Upstate Medical University, Syracuse, New York, United States
- Rehman, Tanzeel, SUNY Upstate Medical University, Syracuse, New York, United States
- Naseeb, Muhammad, SUNY Upstate Medical University, Syracuse, New York, United States
- Hashemi, Sara, SUNY Upstate Medical University, Syracuse, New York, United States
Introduction
Senior Loken syndrome is a rare autosomal recessive ciliopathy characterized by retinal dystrophy and nephronophthisis due to primary cilium dysfunction. First described in 1961 by Loken AC and Senior B. It is genetically heterogeneous, involving mutations such as NPHP and IQCB1. It presents with early onset visual impairment and progressive renal disease. Nephronophthisis is categorized into infantile, juvenile, and adolescent forms, progressing to ESRD at varying ages. Early recognition is essential for timely monitoring and improved outcomes of patients.
Case Description
A 34 year old woman who was diagnosed with Senior Loken syndrome characterized by congenital visual impairment retinitis pigmentosa and progressive renal disease.
She was labelled legally blind since birth. In second decade of life, she developed generalized fatigue and extremity swelling. Blood work during hospital admission showed severe anemia, markedly elevated serum creatinine and significant proteinuria. She was found to have signifcant renal impairment and later underwent renal transplantation at 16 years of age. Her clinical course was notable for two pregnancies, complicated by preeclampsia but both of her off springs were healthy. At the age of 25 years she underwent genetic testing and tested positive for NPHP5. Her brother experienced same symptoms and tested positive for same condition. At the age of 34, her renal allograft failed and was started on hemodialysis. Her transplanted kidney worked for 15 years wihtout any complications. Additonally she developed hypertension, headache and progressive visual deterioration through out the course of her life.
This case illustrates the course of Senior Loken syndrome including pregnancy outcomes, progressive chronic kidney disease, renal transplant/allograft failure and dialysis.
Discussion
Senior Loken syndrome is an uncommon inherited cause of nephronophthisis that is frequently underrecognized due to its rarity and nonspecific early features. The combination of renal impairment and ocular abnormalities specially early onset visual impairment should prompt consideration of genetic testing. Early diagnosis allows close monitoring of kidney function, anticipates progressive decline and facilitates timely planning for renal replacement therapy, renal transplant and thereby improving long term clinical outcomes.