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Dense Deposit Disease/Membranoproliferative Glomerulonephritis Type II.

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GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2007 Jul 20 [updated 2011 May 19].

Author information

1
Molecular Otolaryngology and Renal Research Laboratories, University of Iowa, Iowa City, Iowa
2
Professor of Internal Medicine, Division of Nephrology, Sterba Hearing Research Professor of Otolaryngology, Director, Molecular Otolaryngology and Renal Research Laboratories, University of Iowa, Iowa City, Iowa

Excerpt

CLINICAL CHARACTERISTICS:

Dense deposit disease (DDD)/membranoproliferative glomerulonephritis type II (MPGNII) is characterized by onset of hematuria and/or proteinuria, acute nephritic syndrome, or nephrotic syndrome. It most frequently affects children between ages five and 15 years. Spontaneous remissions are uncommon and about 50% of affected individuals develop end-stage renal disease (ESRD) within ten years of diagnosis. DDD/MPGNII can be associated with acquired partial lipodystrophy (APL). Drusen, whitish-yellow deposits within Bruch's membrane of the retina often develop in the second decade of life; they initially have little impact on vision, but cause vision problems from subretinal neovascular membranes, macular detachment, and central serous retinopathy in about 10% of affected individuals.

DIAGNOSIS/TESTING:

The definitive diagnosis of DDD/MPGNII requires electron microscopy and immunofluorescence studies of a renal biopsy. Sequence variants in the genes CFH, CFHR5, C3, and LMNA have been implicated in the pathogenesis of DDD/MPGNII, a complex genetic disease that is rarely inherited in a simple Mendelian fashion.

MANAGEMENT:

Treatment of manifestations: Nonspecific therapies used in numerous chronic glomerular diseases are the mainstay; use of angiotensin-converting enzyme inhibitors, angiotensin II type-1 receptor blockers, and lipid-lowering agents (in particular hydroxymethylglutaryl coenzyme A reductase inhibitors) should be considered; renal allografts have a lower-than-average survival and an almost 100% risk of DDD/MPGNII recurrence. Prevention of primary manifestations: In individuals with pathogenic variants in CFH, plasma replacement therapy can control complement activation and prevent ESRD. Surveillance: Periodic eye examinations including funduscopic examination. Evaluation of relatives at risk: If two CFH pathogenic variants have been identified in an affected individual, sibs can be offered molecular genetic testing to identify those who have the same variants in order to facilitate early diagnosis and management of renal disease.

GENETIC COUNSELING:

DDD/MPGNII is a complex genetic disease that is rarely inherited in a simple Mendelian fashion. Multiple affected persons within a single nuclear family are only reported occasionally; in these instances, parental consanguinity is common. In persons with DDD/MPGNII in whom two pathogenic variants can be identified in CFH, inheritance is autosomal recessive. However, in most persons with DDD/MPGNII, two pathogenic variants cannot be identified and risks to family members are not known.

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