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1. 菲薄基底膜腎症（良性家族性血尿）thin basement membrane nephropathy benign familial hematuria [show details]
… (FSGS) . TBMN is often familial, with a family history of hematuria being noted in 30 to 50 percent of cases. TBMN seems to account for most cases of what has been called benign familial hematuria. Numerous …
2. 成人の無症候性糸球体性血尿と持続性糸球体性血尿isolated and persistent glomerular hematuria in adults [show details]
…biopsy. TBMN is often familial, with a family history of hematuria being noted in 30 to 50 percent of cases. TBMN seems to account for most cases of what has been called benign familial hematuria. Numerous …
3. 小児における顕微鏡的血尿の評価evaluation of microscopic hematuria in children [show details]
…Alport syndrome with mutations in the COL4A3 and COL4A4 genes. Thin basement membrane (TBM) disease, also called benign familial hematuria, is an autosomal dominant condition. Kidney biopsy reveals an isolated …
4. アルポート症候群（遺伝性腎炎）の遺伝的特性、発症機序、病理genetics pathogenesis and pathology of alport syndrome hereditary nephritis [show details]
…have nonprogressive or very slowly progressive renal disease (historically called "thin basement membrane nephropathy," although some consider this condition to be an Alport variant) . Some evidence suggests…
5. 成人における血尿の原因および評価etiology and evaluation of hematuria in adults [show details]
…without any clear pattern of autosomal inheritance; Thin basement membrane nephropathy (also called thin basement membrane disease or benign familial hematuria), in which gross hematuria is unusual and the family …

English Journal

Pathologic glomerular characteristics and glomerular basement membrane alterations in biopsy-proven thin basement membrane nephropathy.

Kajimoto Y, Endo Y, Terasaki M, Kunugi S, Igarashi T, Mii A, Terasaki Y, Shimizu A.
Clinical and experimental nephrology. 2019 May;23(5)638-649.
Thin basement membrane nephropathy (TBMN) is diagnosed by diffuse thinning of the glomerular basement membrane (GBM) without any clinical and pathologic findings of Alport syndrome and the other renal diseases. TBMN is characterized clinically by benign familial hematuria but rarely develops into en
PMID 30687875

Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically.

Imafuku A, Nozu K, Sawa N, Hasegawa E, Hiramatsu R, Kawada M, Hoshino J, Tanaka K, Ishii Y, Takaichi K, Fujii T, Ohashi K, Iijima K, Ubara Y.
Nephrology (Carlton, Vic.). 2018 Oct;23(10)940-947.
Type IV collagen nephropathies include Alport Syndrome and thin basement membrane nephropathy (TBMN), which are caused by mutations in COL4A3/A4/A5 genes. Recently, reports of patients with heterozygous mutations in COL4A3/A4 have been increasing. The clinical course of these patients has a wide var
PMID 28704582

COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

Voskarides K, Papagregoriou G, Hadjipanagi D, Petrou I, Savva I, Elia A, Athanasiou Y, Pastelli A, Kkolou M, Hadjigavriel M, Stavrou C, Pierides A, Deltas C.
BMC nephrology. 2018 05;19(1)114.
About 40-50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the full phenotypic spectrum of these patients varies a lot, ranging from isolated MH or MH
PMID 29764427

Japanese Journal

Different Expression Patterns of Toll-Like Receptor mRNAs in Blood Mononuclear Cells of IgA Nephropathy and IgA Vasculitis with Nephritis

Saito Ayano,Komatsuda Atsushi,Kaga Hajime,Sato Ryuta,Togashi Masaru,Okuyama Shin,Wakui Hideki,Takahashi Naoto
The Tohoku Journal of Experimental Medicine 240(3), 199-208, 2016
… mRNAs in peripheral blood mononuclear cells (PBMCs) from 49 IgAN patients, 20 IgAVN patients, and 20 patients with thin basement membrane nephropathy (TBMN), unrelated to immune-mediated pathogenesis, as a control. … mRNAs in PBMCs of IgAN and IgAVN patients, compared to TBMN patients. … mRNA levels were significantly higher in IgAN patients than in IgAVN patients, while its expression levels were comparable in IgAVN patients and TBMN patients. …
NAID 130005277933

Morphological diagnosis of Alport syndrome and thin basement membrane nephropathy by low vacuum scanning electron microscopy

OKADA Shinichi,INAGA Sumire,KITAMOTO Koichi,KAWABA Yasuo,NAKANE Hironobu,NAGURO Tomonori,KAIDOH Toshiyuki,KANZAKI Susumu
Biomedical Research 35(5), 345-350, 2014
… Alport syndrome (AS) and thin basement membrane nephropathy (TBMN) are genetic disorders caused by mutations of the type IV collagen genes COL4A3, COL4A4, and/or COL4A5. … We here aimed to investigate the three-dimensional ultrastructure of the glomerular basement membrane (GBM) in order to introduce a novel method of diagnosing AS and TBMN. … The subjects were 4 patients with AS and 6 patients with TBMN. …
NAID 130004701685

常染色体性 Alport 症候群

岡政史,野津寛大,飯島一誠,松尾雅文
日本小児腎臓病学会雑誌 = Japanese journal of pediatric nephrology 23(1), 8-12, 2010-04-15
Alport症候群 (AS) は感音性難聴を伴う遺伝性進行性腎疾患である。高頻度に末期腎不全に至るとされ臨床的に重要な疾患であるが，その臨床像，自然予後は十分には解明されていない。今回，分子遺伝学的特徴および近年報告された家族性良性血尿症候群との関連について，常染色体性Alport症候群を中心に概要をまとめる。
NAID 10026412082

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