Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

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2.

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

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3.

Moake JL et al. (2002) Thrombotic microangiopathies.

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4.

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

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Update: Sept. 26, 2018