Renal diagnosis without renal biopsy. Nephritis and sensorineural deafness

Citation
D. Richardson et al., Renal diagnosis without renal biopsy. Nephritis and sensorineural deafness, NEPH DIAL T, 16(6), 2001, pp. 1291-1294
Citations number
23
Categorie Soggetti
Urology & Nephrology
Journal title
NEPHROLOGY DIALYSIS TRANSPLANTATION
ISSN journal
09310509 → ACNP
Volume
16
Issue
6
Year of publication
2001
Pages
1291 - 1294
Database
ISI
SICI code
0931-0509(200106)16:6<1291:RDWRBN>2.0.ZU;2-U
Abstract
Two examples of hereditary nephropathy within the context of clinical syndr omes are described, Emphasis is put on the ability to make a renal diagnosi s without renal biopsy and the benefits of screening relatives once a diagn osis is achieved. A variant of Alport's syndrome with associated macrothrom bocytic thrombocytopenia, known as Epstein's syndrome, is reported. In addi tion siblings with Alstroms syndrome characterized by pigmentary retinal de generation (causing blindness in early childhood), progressive sensorineura l hearing loss, and progressive renal failure are reported, Both cases had previously presented for non-renal pathology in advance of the onset of sym ptomatic renal failure and may have benefited from appropriate screening.