Nephrol Dial Transplant (1993) 8: 690-695
© 1993 European Renal Association-European Dialysis and Transplant Association
research-article
Hereditary nephritis (Alport's syndrome)—clinical profile and inheritance in 28 kindreds
1Departments of Nephrology Postgraduate Institute of Medical Education and Research Chandigarh, India 2Departments of Pathology Postgraduate Institute of Medical Education and Research Chandigarh, India 3Departments of Ophthalmology Postgraduate Institute of Medical Education and Research Chandigarh, India
Correspondence and offprint requests to: Correspondence and offprint requests to Professor K. S Chugh, Head, Department of Nephrology, Postgraduate Institute of Medical Education and Research, Chandigarh 160012, India.
Sixty-three patients, (52 males and 11 females) from 28 kindreds of hereditary nephritis (Alport's syndrome) were identified over a 14-year period from 1977 to 1991. Group I included 51 patients with (a) positive family history of haematuria with or without chronic renal failure, (b) characteristic GBM changes on electron-microscopy, (c) characteristic ocular signs, and (d) high-frequency sensorineural deaf ness. Group II included 12 patients with a negative family history. All of them had evidence of renal disease with characteristic ocular signs and deafness and four had characteristic GBM changes on electron- microscopy. The main clinical features were haemat uria in 96.8%, deafness in 82.5%, and diminished visual acuity in 66.7% of affected subjects. Hypertension was present in 71.4% patients. Pure tone audiometry revealed high-frequency sensorineural deafness in 96.8%. Ocular examination showed bilat eral anterior lenticonus in 37.8%, retinal flecks in 22.2%, cataract in 20%, and keratoconus in 6.7% patients. Proteinuria (>2.0 g/24 h) was detected in 31.8%. Sixteen (57.1%) of the 28 index patients (all males) were diagnosed for the first time when they presented with end-stage renal disease Serum creatin me in the overall group ranged from 0.9 to 18.7 mg/dl(7.81 ± 5.37 mg/dl). Adequate renal tissue was obtained by biopsy in 14 patients. Light- microscopy revealed focal segmental glomerulo sclerosis in five, mesangial proliferation in four, chronic interstitial nephntis in three, and mesangiocapillary and crescentic glomerulonephritis in one each. Electron-microscopy showed charactenstic changes in the GBM in seven specimens. The absence of male-to- male transmission, evidence of female-to-male and male-to-female transmission as well as brothers, uncle-nephew pairs and affected individuals being on the maternal side of the propositus, and males being more severely affected than females all strongly suggest an X-linked, probably dominant mode of inheritance in group I patients. A mutation involving the Alport gene is suggested in 19% of our patients (group II).
Keywords: Alport's syndrome; hereditary nephritis; X-linked dominant inheritance
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  G. Wei, L. Zhihong, C. Huiping, Z. Caihong, C. Zhaohong, and L. Leishi Spectrum of clinical features and type IV collagen {alpha}-chain distribution in Chinese patients with Alport syndrome Nephrol. Dial. Transplant., November 1, 2006; 21(11): 3146 - 3154. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. P. Jais, B. Knebelmann, I. Giatras, M. De Marchi, G. Rizzoni, A. Renieri, M. Weber, O. Gross, K.-O. Netzer, F. Flinter, et al. X-Linked Alport Syndrome: Natural History and Genotype-Phenotype Correlations in Girls and Women Belonging to 195 Families: A "European Community Alport Syndrome Concerted Action" Study J. Am. Soc. Nephrol., October 1, 2003; 14(10): 2603 - 2610. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. Richardson, M. Shires, and A. M. Davison Renal diagnosis without renal biopsy. Nephritis and sensorineural deafness Nephrol. Dial. Transplant., June 1, 2001; 16(6): 1291 - 1294. [Abstract] [Full Text] [PDF]
|
|