Familial Nephritis Associated With the Nephrotic Syndrome

Albert, Morris S.

doi:10.1001/archpedi.1969.02100030155006

Cited by 9 publications

(3 citation statements)

References 3 publications

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“…While it was initially thought that females with XLAS had a benign renal course with a normal life span [3, 14], in the late 1960's and early 1970's, case reports began demonstrating that females, like affected males with XLAS, can have a progressive course leading to ESRD at a young age [15, 16]. In 1985, Grünfeld et al .…”

Section: Discussionmentioning

confidence: 99%

The variable course of women with X-linked Alport Syndrome

Raju

Cimbaluk

Korbet

2013

Clinical Kidney Journal

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X-linked Alport syndrome (XLAS) arises from mutations in the COL4A5 gene encoding the α5-chain of type IV collagen and is associated with hematuria, ocular abnormalities and high-tone sensorineural hearing loss. Nearly all affected males have decreased kidney function resulting in end-stage renal disease (ESRD) as early as the second decade of life. It was long thought that affected females had a benign outcome; however, in recent decades, it has become quite clear that they too are at risk for developing nephrotic syndrome, decreased kidney function and ESRD. We report two young females presenting with microscopic hematuria and proteinuria diagnosed with XLAS on renal biopsy. Both developed nephrotic-range proteinuria and progressive renal insufficiency. Additionally, both developed extra-renal manifestations of XLAS. The ultrastructural and immunofluorescence features on kidney biopsy were instrumental in making the diagnosis of heterozygous XLAS as neither patient had a family history of AS.

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Section: Discussionmentioning

confidence: 99%

The variable course of women with X-linked Alport Syndrome

Raju

Cimbaluk

Korbet

2013

Clinical Kidney Journal

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“…Even in the 1960s investigators believed that “females usually remain well throughout life…and only rarely have women died of the disease” [10]. However, in the 1960s and 1970’s case reports about severely affected females started to appear in the literature [11]. In 1985, a report from Hôpital Necker in Paris described the natural history of 36 women from 24 families with hereditary nephritis [12].…”

Section: Natural History Of Heterozygous Femalesmentioning

confidence: 99%

Women and Alport syndrome

Rheault

2011

Pediatr Nephrol

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X-linked Alport syndrome (XLAS) is caused by mutations in type IV collagen causing sensorineural hearing loss, eye abnormalities, and progressive kidney dysfunction that results in near universal end-stage renal disease (ESRD) and the need for kidney transplantation in affected males. Until recent decades, the disease burden in heterozygous “carrier” females was largely minimized or ignored. Heterozygous females have widely variable disease outcomes, with some affected females exhibiting normal urinalysis and kidney function, while others develop ESRD and deafness. While the determinants of disease severity in females with XLAS are uncertain, skewing of X-chromosome inactivation has recently been found to play a role. This review will explore the natural history of heterozygous XLAS females, the determinants of disease severity, and the utility of using XLAS females as kidney donors.

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“…Several distinct clinical phenotypes have been described that lead to autosomal dominantly inherited end-stage renal failure. Examples include Alport syndrome (Jefferson et al 1997) and non-Alport nephritis (Ben-Ishay et al 1967;Dockhorn 1967;Albert et al 1969;Gauthier et al 1989), nephronophthisis/medullary cystic kidney disease (Goldman et al 1966), interstitial nephritis (Richmond et al 1981), adult polycystic kidney disease, and various inherited glomerulopathies (Faubert and Porush 1997). Genetic loci for many of these conditions have been defined (Christodoulou et al 1998;Winn et al 1999;Scolari et al 1999), and the disease genes have been isolated for several disorders in this group.…”

Section: Introductionmentioning

confidence: 99%

A Locus for an Autosomal Dominant Form of Progressive Renal Failure and Hypertension at Chromosome 1q21

Cohn

Shohat

Yahav

et al. 2000

The American Journal of Human Genetics

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Linkage studies were performed in a large family with an autosomal dominant phenotype characterized by nephropathy and hypertension. In this family of Iraqi Jewish origin, the nephropathy develops into progressive renal failure. By performing a genomewide linkage search, we localized the disease gene to chromosome 1q21; the highest LOD score was obtained for the marker at locus D1S305, which yielded a maximum LOD score of 4.71 at a recombination fraction of 0. Recombination mapping defined an interval of approximately 11.6 cM, between the markers at loci D1S2696 and D1S2635, that contains the disease gene. Localization of the disease-causing gene in this family represents a necessary step toward isolation of the defective gene and toward a deeper understanding of the mechanisms of hypertension and progressive renal failure.

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Familial Nephritis Associated With the Nephrotic Syndrome

Cited by 9 publications

References 3 publications

The variable course of women with X-linked Alport Syndrome

The variable course of women with X-linked Alport Syndrome

Women and Alport syndrome

A Locus for an Autosomal Dominant Form of Progressive Renal Failure and Hypertension at Chromosome 1q21

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