Results 161 to 170 of about 6,803 (205)

Novel COL4A3-COL4A5 variants and digenic inheritance in pediatric Alport syndrome from Southwestern China. [PDF]

Sci Rep
Chen JY, Jiang XM, Liao YB, Zhang YH, Yang MF, Cui JJ, Wang J, Zhang J, Wang HY, Zhao B.   +9 more
europepmc   +1 more source

REPORT OF THE ITALIAN MULTICENTER STUDY ON ALPORT SYNDROME

, 1993
SERI M, GALLI L, BRUTTINI M, DEMARCHI M, RENIERI A, SAVI, Mario, . .   +6 more
core  

Alport syndrome

, 2015
Alport syndrome is an inherited renal disorder characterized by early haematuria, progressing to proteinuria, sensorineural hearing loss, and progressive renal failure typically in the third or fourth decade but with wide variation. It is responsible for about 1% of end-stage renal failure. Over 80% of cases are X-linked and young men are most affected,
Laurence Heidet, Bertrand Knebelmann, Marie Claire Gubler   +2 more
core   +3 more sources

Interstitial inflammation in Alport syndrome

Human Pathology, 2010
The Alport syndrome is a hereditary glomerular disease linked to structural abnormalities of collagen IV. In a mouse model of Alport syndrome, the interstitial lymphocyte influx was important for disease progression.
Afschin Soleiman, Rudolf P Wüthrich, Oliver Gros   +2 more
exaly   +2 more sources

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Alport's Syndrome

Archives of Otolaryngology - Head and Neck Surgery, 1970
Five patients representing four kindreds of Alport's syndrome (approximately 5% of the reported world literature) are presented with emphasis on the audiological, electronystagmographic, and temporal bone findings. This syndrome is characterized by the two basic hereditary defects of sensorineural hearing loss and nephritis.
G W, Miller, D J, Joseph, R L, Cozad, B F, McCabe   +3 more
openaire   +2 more sources

Alport Syndrome

Advances in Kidney Disease and Health
Alport syndrome (AS) is characterized by progressive kidney failure, hematuria, sensorineural hearing loss, and ocular abnormalities. Pathogenic variants in the COL4A3-5 genes result in a defective deposition of the collagen IV α3α4α5 protomers in the basement membranes of the glomerulus in the kidney, the cochlea in the ear and the cornea, lens ...
Efren Chavez, Stefania Goncalves, Michelle N. Rheault, Alessia Fornoni   +3 more
openaire   +3 more sources

Alport's syndrome and achalasia

Pediatric Nephrology, 1988
A 7-year-old boy presented with a history of postprandial vomiting, failure to thrive, hematuria, proteinuria and decreased renal function. Electron microscopy of a renal biopsy specimen demonstrated the typical glomerular basement membrane changes associated with Alport's syndrome.
H E, Leichter, J, Vargas, A H, Cohen, M, Ament, I B, Salusky   +4 more
openaire   +2 more sources

Variants of Alport's syndrome

Pediatric Nephrology, 1987
Variants of Alport's syndrome include mainly those associated with hereditary macrothrombocytopenia (and occasionally leukocyte inclusions) or with esophageal, tracheobronchial and genital leiomyomatosis. Within Alport's syndrome there appears to be no justification for differentiating those with nephritis and deafness from those with nephritis alone ...
J P, Grünfeld, G, Grateau, L H, Noel, R, Charbonneau, M C, Gubler, C O, Savage, C M, Lockwood   +6 more
openaire   +2 more sources

A CASE OF ALPORT'S SYNDROME

Acta Pathologica Japonica, 1974
A 19‐year‐old female belonging to a family of Alport's syndrome was autopsied and her kidneys were examined in detail light and electron microscopically. The basement membrane was examined chiefly and the laminated thickening and/or splitting, looseness, irregularity and rail‐like appearance of lamina densa were found in the glomerular, Bowman's ...
I, Nishimori, N, Moriyama, N, Tsuda, A, Shimomura   +3 more
openaire   +2 more sources