Biomaterial Database

[Hereditary onycho-osteo-arthrodysplasia (nail-patella syndrome) with progressive renal failure]. 1989

K Stellamor, and W Anzböck

Zentralröntgeninstitut Krankenanstalt Rudolfstiftung der Stadt Wien.

A case of a fully developed hereditary onycho-osteo-arthrodysplasia (nail-patella syndrome) is presented. The typical signs, such as the iliac horns or variations of the knees, cubitals and nails should be familiar to every radiologist. The associated nephropathy seems to be caused by typical changes in the glomerular basement membrane seen in electron microscopy. Asymptomatic proteinuria is found in about 60% of the cases, in 5.5-8% the disease leads to the necessity of haemodialysis because of renal insufficiency. Hence, early diagnosis is very important.

UI	MeSH Term	Description	Entries
D007676	Kidney Failure, Chronic	The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION.	ESRD,End-Stage Renal Disease,Renal Disease, End-Stage,Renal Failure, Chronic,Renal Failure, End-Stage,Chronic Kidney Failure,End-Stage Kidney Disease,Chronic Renal Failure,Disease, End-Stage Kidney,Disease, End-Stage Renal,End Stage Kidney Disease,End Stage Renal Disease,End-Stage Renal Failure,Kidney Disease, End-Stage,Renal Disease, End Stage,Renal Failure, End Stage
D008297	Male		Males
D009261	Nail-Patella Syndrome	A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and congenital nail dystrophy. It is a genetically determined autosomal dominant trait.	Osteo-Onychodysplasia, Hereditary,Osterreicher Syndrome,Pelvic Horn Syndrome,Turner-Kieser Syndrome,Fong Disease,Hereditary Onycho-Osteodysplasia,Hereditary Osteo-Onychodysplasias,Onychoosteodysplasia,Disease, Fong,Hereditary Osteo-Onychodysplasia,Nail Patella Syndrome,Osteo Onychodysplasia, Hereditary,Osteo-Onychodysplasias, Hereditary,Syndrome, Nail-Patella,Syndrome, Osterreicher,Syndrome, Pelvic Horn,Syndrome, Turner-Kieser,Turner Kieser Syndrome
D002899	Chromosomes, Human, Pair 9	A specific pair of GROUP C CHROMSOMES of the human chromosome classification.	Chromosome 9
D005799	Genes, Dominant	Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.	Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults