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==Overview==
==Overview==
[[Thin basement membrane disease]] is usually caused by [[Heterozygous]] [[mutation]] in [[COL4A3]] and [[COL4A4]] [[gene]] in [[autosomal]] nonprogressive [[dominant]] pattern and [[heterozygous]] [[mutation]] in [[COL4A5]] [[gene]] in [[X-chromosome]] may cause [[Thin basement membrane disease]] in [[female.]]. [[Alport syndrome]], [[IgA nephropathy]] are among the most common to have association with [[Thin basement membrane disease]].  Gross [[pathology]] usually shows no distinctive features although [[Diffuse]] thinning of [[GBM]] in [[electron microscopy]], [[Erythrocytes]] in between [[renal tubules]] ad [[bowman's membrane]], *Minimal [[glomerular]] change or [[Mesangial cell|mesangial]] expansion on [[light microscopy]] are seen on [[microscopic]] [[histopathological]] analysis.
[[Thin basement membrane disease]] is usually caused by [[Heterozygous]] [[mutation]] in [[COL4A3]] and [[COL4A4]] [[gene]] in [[autosomal]] nonprogressive [[dominant]] pattern and [[heterozygous]] [[mutation]] in [[COL4A5]] [[gene]] in [[X-chromosome]] may cause [[Thin basement membrane disease]] in [[female.]]. [[Alport syndrome]], [[IgA nephropathy]] are among the most common to have association with [[Thin basement membrane disease]].  Gross [[pathology]] usually shows no distinctive features although [[Diffuse]] thinning of [[GBM]] in [[electron microscopy]], [[Erythrocytes]] in between [[renal tubules]] ad [[bowman's membrane]], Minimal [[glomerular]] change or [[Mesangial cell|mesangial]] expansion on [[light microscopy]] are seen on [[microscopic]] [[histopathological]] analysis.


==Pathophysiology==
==Pathophysiology==

Revision as of 18:45, 24 October 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Thin basement membrane disease is usually caused by Heterozygous mutation in COL4A3 and COL4A4 gene in autosomal nonprogressive dominant pattern and heterozygous mutation in COL4A5 gene in X-chromosome may cause Thin basement membrane disease in female.. Alport syndrome, IgA nephropathy are among the most common to have association with Thin basement membrane disease. Gross pathology usually shows no distinctive features although Diffuse thinning of GBM in electron microscopy, Erythrocytes in between renal tubules ad bowman's membrane, Minimal glomerular change or mesangial expansion on light microscopy are seen on microscopic histopathological analysis.

Pathophysiology

Physiology

Glomerular Basement membranee consists of laminin, Type 4 collagen, heparan sulfate proteoglycan and nidogen. Type 4 collagen is generally composed of Gly-X-Y amino acids rich in six alpha chains (alpha 1-6) that gives type 4 collagen a trimeric shape. The nascent GBM is made up of alpha 1 and 2 initially, then alpha 3-4 trimers are secreted after glomerular capillaries formation which becomes the major component of type 4 collagen and giving the GBM its stability.[1]

Pathology

Heterozygous mutation in COL4A3 and COL4A4 gene is responsible for causing autosomal dominant pattern of 40-50% of Thin basement membrane disease in which people have defective alpha 3, alpha 4 , alpha 5 chains. [1] And heterozygous mutation in COL4A5 gene in X-chromosome may cause Thin basement membrane disease in female..

Genetics

Thin basement membrane disease is an inherited pattern disease affecting successive generations. It may be due to-

Associated condition

Condition associated with Thin basement membrane disease include:

Gross pathology

On gross pathology, there is no distinctive features suggesting TBMD.

Microscopic pathology

On microscopic histopathological analysis, the followings features are noted:


References

  1. 1.0 1.1 Miner JH (May 2012). "The glomerular basement membrane". Exp. Cell Res. 318 (9): 973–8. doi:10.1016/j.yexcr.2012.02.031. PMC 3334451. PMID 22410250.
  2. 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.
  3. Buzza M, Wilson D, Savige J (May 2001). "Segregation of hematuria in thin basement membrane disease with haplotypes at the loci for Alport syndrome". Kidney Int. 59 (5): 1670–6. doi:10.1046/j.1523-1755.2001.0590051670.x. PMID 11318937.
  4. Bailey RR (July 1990). "Familial haematuria due to thin basement membrane nephropathy". N. Z. Med. J. 103 (893): 312–3. PMID 2371004.
  5. Foster K, Markowitz GS, D'Agati VD (May 2005). "Pathology of thin basement membrane nephropathy". Semin. Nephrol. 25 (3): 149–58. doi:10.1016/j.semnephrol.2005.01.006. PMID 15880325.
  6. Ivanyi B, Pap R, Ondrik Z (October 2006). "Thin basement membrane nephropathy: diffuse and segmental types". Arch. Pathol. Lab. Med. 130 (10): 1533–7. doi:10.1043/1543-2165(2006)130[1533:TBMNDA]2.0.CO;2. PMID 17090197.
  7. "Redirecting".

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