Concomitant Progressive Deafness, Chronic Nephritis, and Ocular Lens Disease

Gregg, John B.; Becker, Sidney F.

doi:10.1001/archopht.1963.00960040299005

Cited by 56 publications

(12 citation statements)

References 14 publications

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“…I n 1902, GUTHRIE [29] published the first pedigree, which was later reviewed in 1927 by ALPORT [2], who recognized deafness as part of the syndrome. Subsequently, in addition to describing similar pedigrees of familial hematuria and deafness, authors have reported the association of gross hematuria with a) upper respiratory infections [3,8,9, ll,48, 551; b) the increased morbidity and mortality rate in males [8,11,23,24,32,35,42,51,53,55,69,70] ; c) the high increase of abortions, toxemia, premature births and pyuria during pregnancy in affected females [8,23,24,55,63,701; d) duplication of the ureters [8, 24, 35, 55, 701 ; e) genetic patterns [2, 11, 12, 27, 30, 43, 47, 48, 50-53, 56, 57, 63, 67, 70, 75, 771; f ) eye changes [17,23,28,41,45,48,49,62,65,661; g) aminoaciduria [19,48,61,741 ; h) neurological deficits [42,55,611 ; and i) mental deficits [19, 481. PERKOFF [5 1,531 considered pyuria to be the significant presenting sign in his pedigree and used autopsy data to support his clinical diagnosis of chronic in...…”

Section: Discussionmentioning

confidence: 99%

Hereditary Nephritis: Early Clinical, Functional, and Morphological Studies

et al. 1969

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ExtractThe accumulation of literature on hereditary nephritis with or without nerve deafness attests to the increased awareness of the existence of this syndrome. I t is the purpose of this report to show that there are distinguishing histologic findings in young patients with minimal disease and normal renal function. Eleven patients were studied; 4 were females and 7 were males. Relevant family histories and clinical laboratory findings are shown in table I. I n all patients, hematuria, gross or microscopic, was present. Exacerbations of the hematuria occurred as a part of the exaggerated response of these patients to upper respiratory infection. Renal functional data are shown in table 11. These data were generally within normal limits for our laboratory. Table I11 outlines the morphologic findings observed on renal biopsy. In renal biopsies obtained from 10 patients, there was observed persistence of fetal-like glomeruli characterized by the circumferential crowding of visceral epithelium and an apparent decrease in the number of patent capillaries. The most striking finding in the tubules was the presence of red cells and red blood cell casts seen mainly in the distal and collecting tubules. Foam cells were an infrequent finding but, when present, were unassociated with interstitial fibrosis. Examination of kidney specimens under the electron microscope revealed the presence of at least three glomeruli in seven patients and of fetal-like glomeruli in all patients. There was also circumferential crowding of visceral epithelial cells, particularly at the surface, facing Bowman's capsule. These epithelial cells were characterized by large nuclei, small amounts of cytoplasm, apparently poorly developed intracytoplasmic organelles, and frequent villous-like cytoplasmic projections on the surface. I n families from whom past histories are unavailable, recognition of distinct renal biopsy characteristics would help identify this syndrome in the early stages of disease. At this stage, the combination of morphologic features considered to be characteristic would include the presence of a) fetal-like glomeruli, which were seen by electron microscopy in 7 patients and by light microscopy in 10 patients; b) mild to moderate hypercellularity ; c) large numbers of tubules filled with red blood cells and red blood cell casts; and d) foam cells in the absence of interstitial fibrosis. The fetal-like glomeruli present in our patients did not correspond to any of the normal stages of glomerular development observed under electron microscopy by other investigators, but rather, appeared to represent dysgenesis. Most patients from whom data are reported were more than 2 years of age, at which time fetal glomeruli are exceptional. Of interest was the observation that almost identical histology was found to exist among the siblings. ANTONOVYCH, DEASY, TINA, D'ALBORA, HOLLERMAN a n d CALCAGNO SpeculationT h e fetal-like glomeruli observed o n renal biopsy might b e the result of either a developmental abnormality or dysgenesis. T ...

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Section: Discussionmentioning

confidence: 99%

Hereditary Nephritis: Early Clinical, Functional, and Morphological Studies

et al. 1969

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“…Later a grey raised horseshoe-shaped anterior capsular opacity appeared in the left eye. Gregg and Becker (1963) reported the case of a boy of 14 with Alport's syndrome who ruptured the capsule of the right eye and was later observed to have a small bleb on the anterior surface of the left lens.…”

Section: Discussionmentioning

confidence: 99%

Anterior lenticonus and Alport's syndrome.

Arnott¹,

Crawfurd²,

Toghill³

1966

British Journal of Ophthalmology

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“…These changes are seen very early in the disease, sometimes before detectable histologic changes. The reported pathologic changes in the inner ear are mostly inconsistent, but some have noted degeneration of the outer hair cells and the striae vascularis [24], Zusammenfassung…”

Section: Discussionmentioning

confidence: 99%

Ocular Findings in Alport’s Syndrome

Sabates

Krachmer

Weingeist³

1983

Ophthalmologica

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6 cases of Alport’s syndrome with ocular findings are presented and discussed. 4 cases had bilateral anterior lenticonus, one had retinal changes similar to the flecked retina syndrome and 1 case had posterior polymorphous corneal changes, a previously unreported finding. The varied ocular changes presented here all have in common a pathologic process involving the basement membrane or the specialized epithelium.

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Concomitant Progressive Deafness, Chronic Nephritis, and Ocular Lens Disease

Cited by 56 publications

References 14 publications

Hereditary Nephritis: Early Clinical, Functional, and Morphological Studies

Hereditary Nephritis: Early Clinical, Functional, and Morphological Studies

Anterior lenticonus and Alport's syndrome.

Ocular Findings in Alport’s Syndrome

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