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Serial Kidney Biopsies Reveal Progressive Pathology in Townes-Brocks Syndrome: A Case Report
Susumu Tsunoda1, Shigekazu Kurihara1, Toshiharu Ueno1
1Nephrology Center, Toranomon Hospital, Minato-ku, Tokyo, Japan.
Townes-Brocks syndrome (TBS) is linked to SALL1 gene variants, causing kidney dysfunction. This case highlights how SALL1 variants, congenital kidney issues, and obesity accelerate focal segmental glomerulosclerosis (FSGS) progression.
Area of Science:
- Genetics
- Nephrology
- Rare Diseases
Background:
- Townes-Brocks syndrome (TBS) is an autosomal dominant disorder linked to SALL1 gene variants.
- TBS is characterized by auricular malformations, anal anomalies, limb deformities, and often kidney dysfunction.
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