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the presence of blood in the urine; often a symptom of urinary tract disease (同)haematuria

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1. 弧発性および持続性糸球体性血尿：IgA腎症、アルポート症候群、菲薄基底膜腎症 isolated and persistent glomerular hematuria iga alport thin basement membrane nephropathy

English Journal

COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.

Ramzan K1, Imtiaz F2, Taibah K3, Alnufiee S4, Akhtar M5, Al-Hazzaa SA6, Al-Owain M7.Author information 1Department of Genetics, Research Centre, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia. Electronic address: kramzan@kfshrc.edu.sa.2Department of Genetics, Research Centre, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.3ENT Medical Centre, Riyadh, Saudi Arabia.4Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.5Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.6Department of Ophthalmology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.7Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.AbstractINTRODUCTION: Collagen type IV related nephropathies are due to the defects in collagen IV genes COL4A3, COL4A4, or COL4A5 and comprise a spectrum of phenotypes ranging from Alport Syndrome (AS) to its mild variants, termed as familial haematuria or thin basement membrane nephropathy. Classical AS is a progressive renal disease presenting with a triad of progressive hematuric nephritis and typical extra-renal complications, such as sensorineural hearing loss (SNHL) and variable ocular anomalies. The mode of inheritance in AS is X-linked in 85%, autosomal recessive in 15%, and autosomal dominant in rare cases.
International journal of pediatric otorhinolaryngology.Int J Pediatr Otorhinolaryngol.2013 Dec 18. pii: S0165-5876(13)00654-X. doi: 10.1016/j.ijporl.2013.12.008. [Epub ahead of print]
INTRODUCTION: Collagen type IV related nephropathies are due to the defects in collagen IV genes COL4A3, COL4A4, or COL4A5 and comprise a spectrum of phenotypes ranging from Alport Syndrome (AS) to its mild variants, termed as familial haematuria or thin basement membrane nephropathy. Classical AS i
PMID 24398087

Molecular genetics of familial hematuric diseases.

Deltas C, Pierides A, Voskarides K.Author information Molecular Medicine Research Center and Laboratory of Molecular and Medical Genetics, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus.AbstractThe familial hematuric diseases are a genetically heterogeneous group of monogenic conditions, caused by mutations in one of several genes. The major genes involved are the following: (i) the collagen IV genes COL4A3/A4/A5 that are expressed in the glomerular basement membranes (GBM) and are responsible for the most frequent forms of microscopic hematuria, namely Alport syndrome (X-linked or autosomal recessive) and thin basement membrane nephropathy (TBMN). (ii) The FN1 gene, expressed in the glomerulus and responsible for a rare form of glomerulopathy with fibronectin deposits (GFND). (iii) CFHR5 gene, a recently recognized regulator of the complement alternative pathway and mutated in a recently revisited form of inherited C3 glomerulonephritis (C3GN), characterized by isolated C3 deposits in the absence of immune complexes. A hallmark feature of all conditions is the age-dependent penetrance and a broad phenotypic heterogeneity in the sense that subsets of patients progress to added proteinuria or proteinuria and chronic renal failure that may or may not lead to end-stage kidney disease (ESKD) anywhere between the second and seventh decade of life. In addition to other excellent laboratory tools that assist the clinician in reaching the correct diagnosis, the molecular analysis emerges as the gold standard in establishing the diagnosis in many cases of doubt due to equivocal findings that complicate the differential diagnosis. Recent work led to the description of candidate genetic modifiers which confer a variable risk for progressing to chronic renal failure when co-inherited on the background of a primary glomerulopathy. Finally, more families are still waiting to be studied and more genes to be mapped and cloned that are responsible for other forms of heritable hematuric diseases. The study of such genes and their protein products will likely shed more light on the structure and function of the glomerular filtration barrier and other important glomerular components.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.Nephrol Dial Transplant.2013 Dec;28(12):2946-60. doi: 10.1093/ndt/gft253. Epub 2013 Sep 17.
The familial hematuric diseases are a genetically heterogeneous group of monogenic conditions, caused by mutations in one of several genes. The major genes involved are the following: (i) the collagen IV genes COL4A3/A4/A5 that are expressed in the glomerular basement membranes (GBM) and are respons
PMID 24046192

Collectives of diagnostic biomarkers identify high-risk subpopulations of hematuria patients: exploiting heterogeneity in large-scale biomarker data.

Emmert-Streib F, Abogunrin F, de Matos Simoes R, Duggan B, Ruddock MW, Reid CN, Roddy O, White L, O'Kane HF, O'Rourke D, Anderson NH, Nambirajan T, Williamson KE.Author information Centre for Cancer Research & Cell Biology, Queens University Belfast, Belfast, Northern Ireland.AbstractBACKGROUND: Ineffective risk stratification can delay diagnosis of serious disease in patients with hematuria. We applied a systems biology approach to analyze clinical, demographic and biomarker measurements (n = 29) collected from 157 hematuric patients: 80 urothelial cancer (UC) and 77 controls with confounding pathologies.
BMC medicine.BMC Med.2013 Jan 17;11:12. doi: 10.1186/1741-7015-11-12.
BACKGROUND: Ineffective risk stratification can delay diagnosis of serious disease in patients with hematuria. We applied a systems biology approach to analyze clinical, demographic and biomarker measurements (n = 29) collected from 157 hematuric patients: 80 urothelial cancer (UC) and 77 controls w
PMID 23327460

Japanese Journal

Superimposition of nutcracker syndrome in a hematuric child with idiopathic hypercalciuria and urolithiasis

International journal of urology 13(6), 814-816, 2006-06-01
NAID 10017612456

Chemical and Toxicological Studies on Bracken Fern, Pteridium aquilinum var. latiusculum. VI. Isolation of 5-O-Caffeoylshikimic Acid as an Antithiamine Factor

Chemical & pharmaceutical bulletin 30(9), 3219-3224, 1982-09-25
NAID 110003634746

Chemical and toxicological studies on bracken fern, Pteridium aquilinum var. latiusculum. VI. Isolation of 5-O-caffeoylshikimic acid as an antithiamine factor.