familial LCAT deficiency

家族性LCAT欠損症

WordNet

1. relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
2. occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible

PrepTutorEJDIC

1. 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥
2. 家族の,家族特有の / 違伝的な,血統にあらわれる

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• 1. HDLコレステロール：異常値の臨床的側面 hdl cholesterol clinical aspects of abnormal values
• 2. 棘状細胞（棘状赤血球および有棘赤血球）と標的細胞の原因 causes of spiculated cells echinocytes and acanthocytes and target cells
• 3. アルコール性脂肪性肝炎およびアルコール性肝硬変の臨床症状および診断 clinical manifestations and diagnosis of alcoholic fatty liver disease and alcoholic cirrhosis
• 4. 成人における非アルコール性脂肪性肝疾患（NAFLD）の疫学、臨床的特徴、および診断 epidemiology clinical features and diagnosis of nonalcoholic fatty liver disease in adults

English Journal

• Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis.

• Gregorini G1, Izzi C2, Ravani P3, Obici L4, Dallera N5, Del Barba A6, Negrinelli A1, Tardanico R7, Nardi M8, Biasi L9, Scalvini T6, Merlini G10, Scolari F5.
• Kidney international.Kidney Int.2015 Jun;87(6):1223-9. doi: 10.1038/ki.2014.389. Epub 2015 Jan 7.
• Apolipoprotein A-I is the main protein of high-density lipoprotein particles, and is encoded by the APOA1 gene. Several APOA1 mutations have been found, either affecting the lecithin:cholesterol acyltransferase activity, determining familial HDL deficiency, or resulting in amyloid formation with pre
• PMID 25565309

• Case report: A novel apolipoprotein A-I missense mutation apoA-I (Arg149Ser)Boston associated with decreased lecithin-cholesterol acyltransferase activation and cellular cholesterol efflux.

• Anthanont P1, Asztalos BF2, Polisecki E3, Zachariah B4, Schaefer EJ5.
• Journal of clinical lipidology.J Clin Lipidol.2015 May-Jun;9(3):390-5. doi: 10.1016/j.jacl.2015.02.005. Epub 2015 Mar 5.
• We report a novel heterozygous apolipoprotein A-I (apoA-I) missense mutation (c.517C>A, p.Arg149Ser, designated as apoA-IBoston) in a 67-year-old woman and her 2 sons, who had mean serum high-density lipoprotein (HDL) cholesterol, apoA-I, and apoA-I in very large α-1 HDL that were 10%, 35%, and
• PMID 26073399

• Structure and function of lysosomal phospholipase A2 and lecithin:cholesterol acyltransferase.

• Glukhova A1, Hinkovska-Galcheva V2, Kelly R2, Abe A3, Shayman JA2, Tesmer JJ4.
• Nature communications.Nat Commun.2015 Mar 2;6:6250. doi: 10.1038/ncomms7250.
• Lysosomal phospholipase A2 (LPLA2) and lecithin:cholesterol acyltransferase (LCAT) belong to a structurally uncharacterized family of key lipid-metabolizing enzymes responsible for lung surfactant catabolism and for reverse cholesterol transport, respectively. Whereas LPLA2 is predicted to underlie
• PMID 25727495

Japanese Journal

• Corticosteroid treatment of kidney disease in a patient with familial lecithin-cholesterol acyltransferase deficiency

• MIARKA Przemyslaw,IDZIOR-WALUS Barbara,KUZNIEWSKI Marek,WALUS-MIARKA Malgorzata,KLUPA Tomasz,SULOWICZ Wladyslaw
• Clinical and experimental nephrology 15(3), 424-429, 2011-06-01
• NAID 10029005945

• Molecular Analysis of a Novel LCAT Mutation (Gly179 → Arg) Found in a Patient with Complete LCAT Deficiency

• Wang Xiao Li,Osuga Jun-ichi,Tazoe Fumiko,Okada Kenta,Nagashima Shuichi,Takahashi Manabu,Ohshiro Taichi,Bayasgalan Tumenbayar,Yagyu Hiroaki,Okada Koji,Ishibashi Shun
• Journal of Atherosclerosis and Thrombosis 18(8), 713-719, 2011
• … Lecithin-cholesterol acyltransferase (LCAT) is an important enzyme involved in the esterification of cholesterol. … Here, we report a novel point mutation in the LCAT gene of a 63-year-old female with characteristics of classic familial LCAT deficiency. … Her LCAT activity was extremely low. …
• NAID 130004444539

• Point mutation (C to T) of the LCAT gene resulting in A140C substitution

• Hirashio Shuma,Izumi Kozue,Ueno Toshinori,Arakawa Tetsuji,Naito Takayuki,Taguchi Takashi,Yorioka Noriaki
• Journal of Atherosclerosis and Thrombosis 17(12), 1297-1301, 2010
• … Familial lecithin: cholesterol acyltransferase (LCAT) deficiency is an autosomal recessive disorder characterized by corneal opacity, hemolytic anemia, proteinuria, and a low serum level of high-density lipoprotein cholesterol (HDL-C). … Also, LCAT activity is remarkably decreased or absent.<BR>A 57-year-old Japanese man presented with corneal opacity, proteinuria, and a very low serum level of HDL-C. …
• NAID 130004444399

Related Links

• Orphanet: Familial LCAT deficiency

The portal for rare diseases and orphan drugs ... Summary Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT; see this term) characterized clinically ...

• Familial LCAT deficiency and fish-eye disease - Springer

Title Familial LCAT deficiency and fish-eye disease Journal Journal of Inherited Metabolic Disease Volume 11, Issue 1 Supplement, pp 45-56 Cover Date 1988-03-01 DOI 10.1007/BF01800570 Print ISSN 0141-8955 Online ISSN 1573 ...

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★リンクテーブル★

リンク元	「家族性LCAT欠損症」
関連記事	「deficiency」「LCA」「LC」「familial」「LCAT」

「家族性LCAT欠損症」

　　[★]

英

familial LCAT deficiency

同

家族性レシチン・コレステロールアシルトランスフェラーゼ欠損症 familial lecithin-cholesterol acyltransferase deficiency

「deficiency」

　　[★]

• n.

• 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
• 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関

absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve

　

「LCA」

　　[★]

• CD45 leukocyte common antigen
• left coronary artery
• 肝細胞腺腫 liver cell adenoma
• レーバー先天黒内障 Leber congenital amaurosis
• リトコール酸 lithocholic acid

「LC」

　　[★]

• 腹腔鏡下胆嚢摘出術 laparoscopic cholecystectomy
• Langerhans cells Langerhans cell
• 肝硬変 liver cirrhosis
• 液体クロマトグラフィ liquid chromatography

「familial」

　　[★]

• adj.

• 家族性の、家系性の、家族の

関

family、family member、household、kindred

　 　 　

「LCAT」

　　[★] レシチン・コレステロールアシルトランスフェラーゼ lecithin cholesterol acyltransferase