Factor H deficiency
- Synonyms
- CFH DEFICIENCY; COMPLEMENT FACTOR H DEFICIENCY
Summary
Excerpted from the GeneReview:C3 glomerulopathy (C3G) is a complex ultra-rare complement-mediated renal disease caused by uncontrolled activation of the complement alternative pathway (AP) in the fluid phase (as opposed to cell surface) that is rarely inherited in a simple mendelian fashion. C3G affects individuals of all ages, with a median age at diagnosis of 23 years. Individuals with C3G typically present with hematuria, proteinuria, hematuria and proteinuria, acute nephritic syndrome or nephrotic syndrome, and low levels of the complement component C3. Spontaneous remission of C3G is uncommon, and about half of affected individuals develop end-stage renal disease (ESRD) within ten years of diagnosis, occasionally developing the late comorbidity of impaired visual acuity.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- References
- Chapter Notes
- Authors:
- Bertha MartÃn
- Richard JH Smith
- view full author information
Available tests
39 tests are in the database for this condition.
Clinical tests (39 available)
Clinical features
Help- Abnormality of the genitourinary system
- Chronic kidney disease
Chronic kidney disease
- MedGen UID: 473458
- Concept ID: C1561643
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Glomerular subendothelial electron-dense deposits
Glomerular subendothelial electron-dense deposits
- MedGen UID: 1370779
- Concept ID: C4476539
- Finding: Anatomical Abnormality
Abnormality of the genitourinary system
- Hematuria
Hematuria
- MedGen UID: 5488
- Concept ID: C0018965
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Thickened glomerular basement membrane
Thickened glomerular basement membrane
- MedGen UID: 488906
- Concept ID: C0445347
- Finding: Finding
Abnormality of the genitourinary system
- Chronic kidney disease
- Abnormality of the immune system
- Decreased circulating complement factor H concentration
Decreased circulating complement factor H concentration
- MedGen UID: 409784
- Concept ID: C1969222
- Finding: Finding
Abnormality of the immune system
- Depletion of components of the alternative complement pathway
Depletion of components of the alternative complement pathway
- MedGen UID: 369958
- Concept ID: C1969220
- Finding: Finding
Abnormality of the immune system
- Recurrent bacterial infections
Recurrent bacterial infections
- MedGen UID: 334943
- Concept ID: C1844383
- Finding: Finding
Abnormality of the immune system
- Decreased circulating complement factor H concentration
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