Hereditary nephritis (Alport's syndrome)--clinical profile and inheritance in 28 kindreds.
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 deafness. 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 haematuria 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 bilateral 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 creatinine 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 glomerulosclerosis in five, mesangial proliferation in four, chronic interstitial nephritis in three, and mesangiocapillary and crescentic glomerulonephritis in one each. Electron-microscopy showed characteristic changes in the GBM in seven specimens.(ABSTRACT TRUNCATED AT 250 WORDS)
Chugh
K S
KS
Department of Nephrology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Sakhuja
V
V
Agarwal
A
A
Jha
V
V
Joshi
K
K
Datta
B N
BN
Gupta
A
A
Gupta
K L
KL
D000293:Adolescent; D000328:Adult; D001485:Basement Membrane / Q000648:ultrastructure; D002648:Child; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007668:Kidney / Q000473:pathology / Q000503:physiopathology; D007678:Kidney Glomerulus / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D009394:Nephritis, Hereditary / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010375:Pedigree; D014960:X Chromosome