Thin basement membrane disease diagnostic study of choice
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Marufa Marium, M.B.B.S[2]
Overview
Renal biopsy is the gold standard test for TBMD. The WHO guideline for normal GBM thickness is 250nm for adult and 180nm for children of 2-11 years of age. Diffuse thinning of 50% of glomerular basement membrane in glomerular capillaries is the criteria for diagnosing TBMD on Electron microscopy.
Diagnostic study of choice
The following result of Renal biopsy is confirmatory of TBMD:
- Light microscopy of renal samples shows usually normal glomerular histopathology with minimally showing nonspecific findings including matrix expansion, mesangial cellular proferation, RBCs in glomerular spaces with focal segmental glomerulosclerosis or fibrosis on rare occasions.[1]
- Electron microscopy of renal samples shows diffuse thinning of 50% of glomerular basement membrane in glomerular capillaries. GBM thickness should be measured according to age.The WHO guideline for normal GBM thickness is 250nm for adult and 180nm for children of 2-11 years of age. [2] Early stages of X-linked alport syndrome is similar to TBMD, so differential features including lamellation/thickening must be ruled out on electron microscopy. [3]
- Immunohistochemistry of renal samples evaluates Type 4 collagen alpha 3-alpha5 chains to differentiate TBMD and early stage of alport syndrome.[4]
- Absence of any other gross Glomerular pathology.
References
- ↑ 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.
- ↑ Vogler C, McAdams AJ, Homan SM (1987). "Glomerular basement membrane and lamina densa in infants and children: an ultrastructural evaluation". Pediatr Pathol. 7 (5–6): 527–34. doi:10.3109/15513818709161416. PMID 3449814.
- ↑ "Thin Basement Membrane Nephropathy | American Society of Nephrology".
- ↑ Gubler MC, Knebelmann B, Beziau A, Broyer M, Pirson Y, Haddoum F, Kleppel MM, Antignac C (April 1995). "Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution". Kidney Int. 47 (4): 1142–7. doi:10.1038/ki.1995.163. PMID 7783412.