Hereditary Nephropathy With Nerve Deafness (Alport's Syndrome)

Ferguson, Alexander C.; Rance, C.P.

doi:10.1001/archpedi.1972.02110130086013

Cited by 4 publications

(3 citation statements)

References 12 publications

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“…While two oif these girls (VI-40, V-150) are still fairly young and may develop hematuria later in life, one is older than her affected sister, yet remains unaffected, and the third female (Fig. 1, VI-26) is nearly 20, by which time hematuria has usually developed in affected individuals (Shaw & Glover 1961, Ferguson & Rance 1972, Gaboardi et al 1974, Hallberg 1976, Shaw & Kallen 1976. Unaffected daughters of affected males occur in the Utah pedigree, too.…”

Section: Discussionmentioning

confidence: 99%

“…It seems highly possible that there is heterogeneity in the inheritance pattern of this trait, a fact which would perhaps explain the variable severity of the disease. The mode of transmission must be consistent within a given family, although oc-casionally there is variation between sibships in large families in the severity with which individuals are affected with Alport's (Ferguson & Rance 1972).…”

Section: Discussionmentioning

confidence: 99%

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Apparently changing patterns of inheritance in Alport's hereditary nephritis: Genetic heterogeneity versus altered diagnostic criteria

Evans¹,

Erickson

Kelsch

et al. 1980

Clinical Genetics

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With the use of more stringent diagnostic criteria, it has recently been shown that some large pedigrees of Alport's and non-Alport's hereditary nephritis fit sex-linked dominant inheritance (O'Neill et al. 1978). We have used similar diagnostic criteria and have studied a number of Michigan pedigrees in order to see if this hypothesis would be confirmed. We found one small pedigree which definitely shows male-to-male transmission, while one large pedigree is tentatively compatible with sex-linked dominant inheritance. Many of the other pedigrees suggested male-to-male transmission. This Michigan experience is compared to other published reports and found to be consistent, although a trend of fewer reports of male-to-male transmission is seen. We conclude that genetic heterogeneity of Alport's hereditary nephritis is likely.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Apparently changing patterns of inheritance in Alport's hereditary nephritis: Genetic heterogeneity versus altered diagnostic criteria

Evans¹,

Erickson

Kelsch

et al. 1980

Clinical Genetics

View full text Add to dashboard Cite

show abstract

“…Thirty six percent present with macroscopic haematuria at an average age of 9 years, and a further 40% are detected when they are found to have microscopic haematuria on routine urine analysis. Earlier reports have suggested a gene penetrance in adult females of 85%, implying that 15% do not even have microscopic haematuria,3' but other authors have found that all obligate carriers have microscopic haematuria (at least) by the age of 20 years.30 32 One third become hypertensive (usually in middle age) and the risk of CRF may be as high as 15%,23 although this figure may be artificially inflated by ascertainment bias.…”

Section: ) High Tone Sensorineural Deafnessmentioning

confidence: 99%