Thrombotic microangiopathies

This group of diseases is characterized by systemic or intrarenal aggregation of platelets, thrombocytopenia, and mechanical injury to erythrocytes.

Test Strategy

Along with the well known routine laboratory parameters, measurement of factor H and metalloproteinases namely ADAMTS13 is recommended.

Pathogenesis

The pathogenetic link is the occlusion of microvessels by microthrombi. The resulting insufficient perfusion is responsible for the organ specific symptoms.

Systematic

Hereditary kidney diseases
	Congenital abnormalities of the kidney and urinary tract
	Cystic kidney disease
	Disorders of tubular solute transport
	Hereditary glomerular disease
	Hereditary metabolic kidney disease
	Hereditary renal tumors
	Interstitial kidney disease
	Kidney disease appearing as endocrinological disorders
	Thrombotic microangiopathies
		Hemolytic-Uremic Syndrome
			ADAMTS13
			C3
			C4BPA
			C4BPB
			CD46
			CFB
			CFH
			CFHR1
			CFHR2
			CFHR3
			CFHR4
			CFHR5
			CFI
			CLU
			DGKE
			Methylmalonic aciduria
				Methylmalonic aciduria and homocystinuria cblC
					MMACHC
				Methylmalonic aciduria and homocystinuria cblD
					MMADHC
				Methylmalonic aciduria type mut
					MUT
			PIGA
			PLG
			THBD
		Poor response to Eculizumab
			C5
		Thrombotic Thrombocytopenic Purpura
			ADAMTS13
	Urolithiasis

References:

1.	Nürnberger J et al. (2009) Eculizumab for atypical hemolytic-uremic syndrome.

2.	McCrae KR et al. (2001) Platelets: an update on diagnosis and management of thrombocytopenic disorders.

3.	None (2002) Thrombotic microangiopathies.

4.	Shah NT et al. (2003) Controversies in differentiating thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.

5.	Wikipedia article Wikipedia EN (Thrombotic_microangiopathy)