1.
J Emerg Med
; 43(2): 348-9, 2012 Aug.
Article
in English
| MEDLINE
| ID: mdl-22051840
2.
Int Urol Nephrol
; 42(2): 499-502, 2010 Jun.
Article
in English
| MEDLINE
| ID: mdl-19296234
3.
Diabetes Care
; 30(2): 444, 2007 Feb.
Article
in English
| MEDLINE
| ID: mdl-17259530
4.
Am J Kidney Dis
; 47(1): e17-9, 2006 Jan.
Article
in English
| MEDLINE
| ID: mdl-16377376
ABSTRACT
A 22 -year-old white man was found to have a serum creatinine level of 3.4 mg/dL (259 micromol/L) and 6 g of protein in a 24-hour urine collection. Laboratory studies performed 5 years prior showed no evidence of abnormal renal function. Neurofibromatosis had been diagnosed in infancy, and genetic testing showed that the patient had a mutation in chromosome 17, consistent with neurofibromatosis type I. Mutations on chromosomes 1, 11, and 19 have been reported to result in genetic forms of focal segmental glomerular sclerosis. This is the first case report of focal segmental glomerular sclerosis occurring in a patient with neurofibromatosis type I.
Subject(s)
Glomerulosclerosis, Focal Segmental/etiology , Neurofibromatosis 1/complications , Adult , Chromosomes, Human, Pair 17/genetics , Female , Genes, Neurofibromatosis 1 , Glomerulosclerosis, Focal Segmental/pathology , Humans , Proteinuria/etiology
5.
Am J Med
; 114(3): 224-6, 2003 Feb 15.
Article
in English
| MEDLINE
| ID: mdl-12637137