Hypercalciuria and nephrocalcinosis in the oculocerebrorenal syndrome. J Urol 1995 Apr;153(4):1244-6
Date
04/01/1995Pubmed ID
7869519DOI
10.1016/S0022-5347(01)67575-XScopus ID
2-s2.0-0028945343 (requires institutional sign-in at Scopus site) 39 CitationsAbstract
The oculocerebrorenal (Lowe) syndrome is an X-linked recessive disorder characterized by congenital cataracts, hypotonia, developmental delay, poor growth and renal tubular dysfunction. Although the disorder has been mapped to chromosome Xq24-26, the underlying metabolic defect remains unknown. The renal component of the Lowe syndrome comprises tubular dysfunction, that is tubular proteinuria and generalized aminoaciduria progressing to the renal Fanconi syndrome, with later glomerular disease. Clinical problems typically include polyuria, acidosis, hypophosphatemia with rickets and eventually end stage renal disease. Hypercalciuria and its sequelae (nephrocalcinosis and nephrolithiasis) have not been described as cardinal features of the untreated disorder although they reportedly complicate vitamin D and calcium therapy of rickets. We discuss 5 boys with congenital cataracts, hypotonia, developmental delay, failure to thrive and the renal Fanconi syndrome who were diagnosed with the Lowe syndrome and in whom hypercalciuria was documented at diagnosis. We conclude that hypercalciuria and its sequelae may occur commonly in patients with the Lowe syndrome as a component of tubular dysfunction or a complication of therapy.
Author List
Sliman GA, Winters WD, Shaw DW, Avner EDAuthor
Ellis D. Avner MD Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
CalciumChild
Child, Preschool
Humans
Infant
Male
Nephrocalcinosis
Oculocerebrorenal Syndrome
