Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Thin basement membrane disease causes
Introduction
Overview
Overview
Thin basement membrane disease is an inherited disorder caused by mutation in COL4A3, COL4A4 and rarely COL4A5 gene mutation. Some form of TBMD are due to ‘De novo‘ mutation.
Causes
Causes
Most common cause of TBMD may include:
- Autosomal dominant inheritance due to heterozygous mutation in COL4A3 and COL4A4 gene.
Less common causes of TBMD include:
- Heterozygous mutation in COL4A5 gene in X-chromosome causing Thin basement membrane like disease in female
- ‘De novo‘ mutation.[1]
References
References
- ↑ Rana K, Wang YY, Buzza M, Tonna S, Zhang KW, Lin T, Sin L, Padavarat S, Savige J (May 2005). “The genetics of thin basement membrane nephropathy”. Semin. Nephrol. 25 (3): 163–70. doi:10.1016/j.semnephrol.2005.01.008. PMID 15880327.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Marufa Marium, M.B.B.S[2]