[A nineteen year observation of a boy with branchio-oto-renal syndrome and chronic renal failure].
Branchio-oto-renal syndrome is a rare autosomal dominant disorder of the first and second embryonic branchial arches and the urinary tract. It is characterized in its full expression by branchial fistulas or cysts, preauricular pits, outer, middle and inner ear defects, hearing loss, lachrymal duct stenosis, facial paralysis and mental retardation. Renal anomalies may range from mild hypoplasia to complete absence. Our report demonstrates the patient with classical BOR syndrome and severe renal insufficiency since infancy up to end stage renal failure at 18 years of age caused by bilateral renal hypoplasia. Although no definitive histological diagnosis was made, the clinical findings in our patients, like mild proteinuria, normal blood pressure, polyuria, polydypsia, hyperchloremic acidosis and typical course of renal failure support the diagnosis of oligomeganephronia in this case.
Sikora
P
P
Klinika Pediatrii i Nefrologii Akademii Medycznej w Lublinie.
Zajaczkowska
M
M
Katska
E
E
Niedzielska
G
G
D000293:Adolescent; D019280:Branchio-Oto-Renal Syndrome / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology*; D008297:Male