Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.

Nephrotic range proteinuria

Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children.

Total: 1

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PMID (PMCID)
23805377 (3693487)	OTHER
	Focal segmental glomerulosclerosis in association with neurofibromatosis type 1: a case report and proposed molecular pathways.
	Afshinnia F, Vega-Warner V, Killen P. Clin Kidney J. 2013;6(2):208-210.
	A 42-year-old Caucasian female with history of neurofibromatosis type 1 presented with nephrotic range proteinuria and focal segmental glomerulosclerosis (FSGS).