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Mesangiocapillary glomerulonephritis, type II

MedGen UID:
124345
Concept ID:
C0268743
Disease or Syndrome
Synonyms: Dense deposit disease; Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II; Membranoproliferative glomerulonephritis type 2; Mesangiocapillary glomerulonephritis type 2; MPGN 2
SNOMED CT: Dense deposit disease (722760002); Mesangiocapillary glomerulonephritis type 2 (722760002); Membranoproliferative glomerulonephritis type 2 (722760002); MPGNII - membranoproliferative glomerulonephritis type II (722760002); MCGN (mesangiocapillary glomerulonephritis) type II (722760002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): DGKE (17q22)
Related gene: CFHR5
 
Monarch Initiative: MONDO:0019736
Orphanet: ORPHA93571

Disease characteristics

Excerpted from the GeneReview: C3 Glomerulopathy
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. [from GeneReviews]
Authors:
Bertha Martín  |  Richard JH Smith   view full author information

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.

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.

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.  https://medlineplus.gov/genetics/condition/c3-glomerulopathy

Professional guidelines

PubMed

Noris M, Remuzzi G
Nephrol Dial Transplant 2024 Jan 31;39(2):202-214. doi: 10.1093/ndt/gfad182. PMID: 37604793Free PMC Article
Noris M, Daina E, Remuzzi G
Nephrol Dial Transplant 2023 Feb 13;38(2):283-290. doi: 10.1093/ndt/gfab281. PMID: 34596686
Ahmad SB, Bomback AS
Adv Chronic Kidney Dis 2020 Mar;27(2):104-110. doi: 10.1053/j.ackd.2019.12.003. PMID: 32553242

Recent clinical studies

Etiology

D'souza Y, Jones CJ, Bonshek R
J Mol Histol 2008 Feb;39(1):77-86. Epub 2007 Sep 11 doi: 10.1007/s10735-007-9130-5. PMID: 17846903
Bennett WM, Fassett RG, Walker RG, Fairley KF, d'Apice AJ, Kincaid-Smith P
Am J Kidney Dis 1989 Jun;13(6):469-76. doi: 10.1016/s0272-6386(89)80004-6. PMID: 2658560
Raines MF, Duvall-Young J, Short CD
Br J Ophthalmol 1989 Nov;73(11):907-10. doi: 10.1136/bjo.73.11.907. PMID: 2605145Free PMC Article
Duvall-Young J, Short CD, Raines MF, Gokal R, Lawler W
Br J Ophthalmol 1989 Nov;73(11):900-6. doi: 10.1136/bjo.73.11.900. PMID: 2605144Free PMC Article

Diagnosis

D'souza Y, Jones CJ, Bonshek R
J Mol Histol 2008 Feb;39(1):77-86. Epub 2007 Sep 11 doi: 10.1007/s10735-007-9130-5. PMID: 17846903

Therapy

Font J, Herrero C, Bosch X, Cervera R, Ingelmo M, Mascaró JM
J Am Acad Dermatol 1990 Feb;22(2 Pt 2):337-40. doi: 10.1016/0190-9622(90)70042-g. PMID: 2303589

Prognosis

Bennett WM, Fassett RG, Walker RG, Fairley KF, d'Apice AJ, Kincaid-Smith P
Am J Kidney Dis 1989 Jun;13(6):469-76. doi: 10.1016/s0272-6386(89)80004-6. PMID: 2658560

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