U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

CFHR5 deficiency(C3G3)

MedGen UID:
766634
Concept ID:
C3553720
Disease or Syndrome
Synonym: C3 GLOMERULOPATHY 3
 
Gene (location): CFHR5 (1q31.3)
 
OMIM®: 614809

Definition

C3 glomerulopathy-3 (C3G3) is an autosomal dominant kidney disease characterized by the onset of microscopic or macroscopic hematuria in the first 3 decades of life, followed by variable progression of renal disease. After age 30, about half of patients continue to have episodic hematuria while maintaining normal renal function, whereas the other half develop proteinuria and progressive renal failure or end-stage renal disease. In some cases, renal dysfunction may be triggered or exacerbated by an infectious disease, often an upper respiratory infection or pharyngitis. Some patients may also develop hypertension. Renal biopsy shows glomerular C3 deposition and mesangial proliferation with glomerulonephritis. Membranoproliferative glomerulonephritis (MPGN) may also be observed on renal biopsy. Males tend to have a more severe phenotype than females and are more likely to develop end-stage renal disease, often necessitating dialysis or renal transplant (summary by Athanasiou et al., 2011). For a general description and discussion of genetic heterogeneity of C3G, see C3G1 (609814). [from OMIM]

Additional description

From MedlinePlus Genetics
C3 glomerulopathy is a group of related conditions that cause the kidneys to malfunction. The major features of C3 glomerulopathy include high levels of protein in the urine (proteinuria), blood in the urine (hematuria), reduced amounts of urine, low levels of protein in the blood, and swelling in many areas of the body. Affected individuals may have particularly low levels of a protein called complement component 3 (or C3) in the blood.

One of the two forms of C3 glomerulopathy, dense deposit disease, can also be associated with other conditions unrelated to kidney function. For example, people with dense deposit disease may have acquired partial lipodystrophy, a condition characterized by a lack of fatty (adipose) tissue under the skin in the upper part of the body. Additionally, some people with dense deposit disease develop a buildup of yellowish deposits called drusen in the light-sensitive tissue at the back of the eye (the retina). These deposits usually appear in childhood or adolescence and can cause vision problems later in life.

The kidney problems associated with C3 glomerulopathy tend to worsen over time. About half of affected individuals develop end-stage renal disease (ESRD) within 10 years after their diagnosis. ESRD is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.

Researchers have identified two major forms of C3 glomerulopathy: dense deposit disease and C3 glomerulonephritis. Although the two disorders cause similar kidney problems, the features of dense deposit disease tend to appear earlier than those of C3 glomerulonephritis, usually in adolescence. However, the signs and symptoms of either disease may not begin until adulthood.  https://medlineplus.gov/genetics/condition/c3-glomerulopathy

Clinical features

From HPO
Microscopic hematuria
MedGen UID:
65997
Concept ID:
C0239937
Finding
Microscopic hematuria detected by dipstick or microscopic examination of the urine.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Stage 5 chronic kidney disease
MedGen UID:
384526
Concept ID:
C2316810
Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Mesangial matrix expansion
MedGen UID:
766636
Concept ID:
C3553722
Finding
Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas.
Mesangial hypercellularity
MedGen UID:
924090
Concept ID:
C4281741
Cell or Molecular Dysfunction
Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain.
Thickening of glomerular capillary wall
MedGen UID:
927616
Concept ID:
C4293707
Finding
Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself.
Glomerular subendothelial electron-dense deposits
MedGen UID:
1370779
Concept ID:
C4476539
Anatomical Abnormality
Electron dense deposits at the glomerular basement membrane,
Glomerular C3 deposition
MedGen UID:
1375318
Concept ID:
C4476555
Finding
The presence of complement 3 deposits in the glomerulus.
Glomerulonephritis
MedGen UID:
6616
Concept ID:
C0017658
Disease or Syndrome
Inflammation of the renal glomeruli.

Recent clinical studies

Etiology

Skerka C, Chen Q, Fremeaux-Bacchi V, Roumenina LT
Mol Immunol 2013 Dec 15;56(3):170-80. Epub 2013 Jul 3 doi: 10.1016/j.molimm.2013.06.001. PMID: 23830046
Servais A, Noël LH, Frémeaux-Bacchi V, Lesavre P
Contrib Nephrol 2013;181:185-93. Epub 2013 May 8 doi: 10.1159/000348654. PMID: 23689580
Vernon KA, Goicoechea de Jorge E, Hall AE, Fremeaux-Bacchi V, Aitman TJ, Cook HT, Hangartner R, Koziell A, Pickering MC
Am J Kidney Dis 2012 Jul;60(1):121-5. Epub 2012 Apr 13 doi: 10.1053/j.ajkd.2012.02.329. PMID: 22503529Free PMC Article
Abrera-Abeleda MA, Nishimura C, Smith JL, Sethi S, McRae JL, Murphy BF, Silvestri G, Skerka C, Józsi M, Zipfel PF, Hageman GS, Smith RJ
J Med Genet 2006 Jul;43(7):582-9. Epub 2005 Nov 18 doi: 10.1136/jmg.2005.038315. PMID: 16299065Free PMC Article

Diagnosis

Wei X, Li J, Zhan X, Tu L, Huang H, Wang Y
J Med Case Rep 2022 Mar 4;16(1):101. doi: 10.1186/s13256-022-03312-y. PMID: 35241161Free PMC Article
Hu X, Liu H, Du J, Chen Y, Yang M, Xie Y, Chen J, Yan S, Ouyang S, Gong Z
Immunobiology 2019 May;224(3):339-346. Epub 2019 Apr 3 doi: 10.1016/j.imbio.2019.03.005. PMID: 30975435
Servais A, Noël LH, Frémeaux-Bacchi V, Lesavre P
Contrib Nephrol 2013;181:185-93. Epub 2013 May 8 doi: 10.1159/000348654. PMID: 23689580
Abrera-Abeleda MA, Nishimura C, Smith JL, Sethi S, McRae JL, Murphy BF, Silvestri G, Skerka C, Józsi M, Zipfel PF, Hageman GS, Smith RJ
J Med Genet 2006 Jul;43(7):582-9. Epub 2005 Nov 18 doi: 10.1136/jmg.2005.038315. PMID: 16299065Free PMC Article

Therapy

Servais A, Noël LH, Frémeaux-Bacchi V, Lesavre P
Contrib Nephrol 2013;181:185-93. Epub 2013 May 8 doi: 10.1159/000348654. PMID: 23689580

Prognosis

Hu X, Liu H, Du J, Chen Y, Yang M, Xie Y, Chen J, Yan S, Ouyang S, Gong Z
Immunobiology 2019 May;224(3):339-346. Epub 2019 Apr 3 doi: 10.1016/j.imbio.2019.03.005. PMID: 30975435

Clinical prediction guides

Hu X, Liu H, Du J, Chen Y, Yang M, Xie Y, Chen J, Yan S, Ouyang S, Gong Z
Immunobiology 2019 May;224(3):339-346. Epub 2019 Apr 3 doi: 10.1016/j.imbio.2019.03.005. PMID: 30975435

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...