Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0016199 (
flank pain
)
2,189
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We describe a father and three offspring with hematuria. The father and one girl also complained of
flank pain
. Renal function tests and ophthalmological examinations were normal in all. The father had very mild neural deafness. The renal biopsy samples of two affected siblings showed changes compatible with thin basement membrane disease. Genetic analysis revealed a novel missense mutation in exon 32 of
COL4A4
to be responsible for the phenotype in this family. We suggest that thin basement membrane disease may have overlapping clinical features with other causes of hematuria; genetic analysis may help in the differential diagnosis and help us further understand the disease processes.
...
PMID:Benign familial hematuria associated with a novel COL4A4 mutation. 1168 92
