WordNet

a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
British political cartoonist (born in New Zealand) who created the character Colonel Blimp (1891-1963) (同)David Low, Sir David Low, Sir David Alexander Cecil Low

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(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/06/07 19:29:19」(JST)

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Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia and areflexia, mental retardation, proximal tubular acidosis, aminoaciduria, phosphaturia, and low-molecular-weight proteinuria. Glaucoma is present in about 50% of cases.

Lowe syndrome can be considered a cause of Fanconi syndrome (bicarbonaturia, renal tubular acidosis, aminoaciduria, phosphaturia, tubular proteinuria, and impaired urine-concentrating ability).^[1]

Presentation

Because it is an X-linked recessive condition, the disease develops mostly in men with very rare occurrences in women, while women are carriers of the disease. It has an estimated prevalence of 1 in 500,000 people.^[2] Boys with Lowe syndrome are born with cataracts in both eyes (the hallmark of the disease). Glaucoma is present in about 50% of the patients with Lowe syndrome, though usually not at birth. While not present at birth, many affected boys develop kidney problems at about one year of age. Renal pathology is characterized by an abnormal loss of certain substances into the urine, including bicarbonate, sodium, potassium, amino acids, organic acids, albumin and other small proteins, calcium, phosphate, glucose, and L-carnitine. This problem, known as Fanconi-type renal tubular dysfunction, can also be seen in other diseases and syndromes.

Genetics

Oculocerebrorenal syndrome has an X-linked recessive mode of inheritance

This syndrome is caused by mutations in the OCRL1 gene which encodes a inositol polyphosphate-5-phosphatase.^[3] At least one mechanism by which these mutations cause this syndrome is by loss of its Rab binding domain.^[4] This protein is associated with the primary cilia of the retinal pigment epithelial cells, fibroblasts and kidney tubular cells.^[5] This suggests that this syndrome is due to dysfunction of the cilia in these cells.^[6]

History

It was first described in 1952 by Charles Lowe and colleagues at the Massachusetts General Hospital in Boston.^[7] Because of the three major organ systems involved (eyes, brain, and kidney), it is also known as oculocerebrorenal syndrome.

Eponym

It is named for Charles Upton Lowe (August 24, 1921–February 9, 2012 ).^[8]

References

^ Vilasi A, Cutillas PR, Maher AD et al. (August 2007). "Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome". Am. J. Physiol. Renal Physiol. 293 (2): F456–67. doi:10.1152/ajprenal.00095.2007. PMID 17494094.
^ Loi M. Lowe Syndrome. Orphanet Journal of Rare Diseases 2006,1:16
^ Kanık A, Kasap-Demir B, Ateşli R, Eliaçık K, Yavaşcan O, Helvacı M (2013) A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome. The Turkish Journal of Pediatrics 55(1):82-85
^ Hagemann N, Hou X, Goody RS, Itzen A, Erdmann KS (2012) Crystal structure of the Rab binding domain of OCRL1 in complex with Rab8 and functional implications of the OCRL1/Rab8 module for Lowe syndrome. Small GTPases 3(2):107-10. doi: 10.4161/sgtp.19380
^ Luo N, West CC, Murga-Zamalloa CA, Sun L, Anderson RM, Wells CD, Weinreb RN, Travers JB, Khanna H, Sun Y (2012) OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome. Hum Mol Genet 21(15):3333-3344 doi: 10.1093/hmg/dds163
^ Rbaibi Y, Cui S, Mo D, Carattino M, Rohatgi R, Satlin LM, Szalinski CM, Swanhart LM, Fölsch H, Hukriede NA, Weisz OA. OCRL1 modulates cilia length in renal epithelial cells. Traffic 13(9):1295-305. doi: 10.1111/j.1600-0854.2012.01387.x
^ Lowe CU, Terrey M, MacLachlan EA; Terrey; MacLachlan (1952). "Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity". A.M.A. American journal of diseases of children 83 (2): 164–84. PMID 14884753.
^ synd/3512 at Who Named It?

External links

Lowe Syndrome Association official website
U.K. Lowe Syndrome Trust
GeneReview/NIH/UW entry on Lowe syndrome

UpToDate Contents

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1. 幼児および小児における尿細管性アシドーシスの病因および臨床症状 etiology and clinical manifestations of renal tubular acidosis in infants and children
2. デント病（X連鎖劣性腎結石症） dents disease x linked recessive nephrolithiasis
3. 小児における白内障 cataract in children
4. 男性不妊症の原因 causes of male infertility
5. 児童虐待の整形外科的症状の鑑別診断 differential diagnosis of the orthopedic manifestations of child abuse

English Journal

Deficiency in Perlecan/HSPG2 During Bone Development Enhances Osteogenesis and Decreases Quality of Adult Bone in Mice.

Lowe DA1, Lepori-Bui N, Fomin PV, Sloofman LG, Zhou X, Farach-Carson MC, Wang L, Kirn-Safran CB.
Calcified tissue international.Calcif Tissue Int.2014 May 6. [Epub ahead of print]
Perlecan/HSPG2 (Pln) is a large heparan sulfate proteoglycan abundant in the extracellular matrix of cartilage and the lacunocanalicular space of adult bones. Although Pln function during cartilage development is critical, evidenced by deficiency disorders including Schwartz-Jampel Syndrome and dyss
PMID 24798737

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

Pinto D1, Delaby E2, Merico D3, Barbosa M4, Merikangas A5, Klei L6, Thiruvahindrapuram B3, Xu X7, Ziman R3, Wang Z3, Vorstman JA8, Thompson A9, Regan R10, Pilorge M2, Pellecchia G3, Pagnamenta AT11, Oliveira B12, Marshall CR13, Magalhaes TR10, Lowe JK14, Howe JL3, Griswold AJ15, Gilbert J15, Duketis E16, Dombroski BA17, De Jonge MV8, Cuccaro M15, Crawford EL18, Correia CT12, Conroy J19, Conceição IC12, Chiocchetti AG16, Casey JP10, Cai G20, Cabrol C2, Bolshakova N5, Bacchelli E21, Anney R5, Gallinger S22, Cotterchio M23, Casey G24, Zwaigenbaum L25, Wittemeyer K26, Wing K11, Wallace S27, van Engeland H8, Tryfon A28, Thomson S18, Soorya L28, Rogé B29, Roberts W30, Poustka F16, Mouga S31, Minshew N6, McInnes LA28, McGrew SG32, Lord C33, Leboyer M34, Le Couteur AS35, Kolevzon A36, Jiménez González P37, Jacob S38, Holt R11, Guter S39, Green J40, Green A41, Gillberg C42, Fernandez BA43, Duque F31, Delorme R44, Dawson G45, Chaste P46, Café C47, Brennan S5, Bourgeron T48, Bolton PF49, Bölte S50, Bernier R51, Baird G52, Bailey AJ27, Anagnostou E53, Almeida J47, Wijsman EM54, Vieland VJ55, Vicente AM12, Schellenberg GD17, Pericak-Vance M15, Paterson AD56, Parr JR57, Oliveira G31, Nurnberger JI58, Monaco AP59, Maestrini E21, Klauck SM60, Hakonarson H61, Haines JL18, Geschwind DH14, Freitag CM16, Folstein SE62, Ennis S41, Coon H63, Battaglia A64, Szatmari P9, Sutcliffe JS18, Hallmayer J65, Gill M5, Cook EH39, Buxbaum JD66, Devlin B6, Gallagher L5, Betancur C67, Scherer SW68.
American journal of human genetics.Am J Hum Genet.2014 May 1;94(5):677-94. doi: 10.1016/j.ajhg.2014.03.018. Epub 2014 Apr 24.
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subj
PMID 24768552

[Lowe syndrome revealed by prenatal diagnosis of congenital cataract with brain abnormalities].

Zéphir P1, Decramer S2, Sartor A3, Vayssière C3.
Gynécologie, obstétrique & fertilité.Gynecol Obstet Fertil.2014 May;42(5):350-2. doi: 10.1016/j.gyobfe.2013.06.013. Epub 2013 Dec 3.
Congenital cataract is a rare disease whose incidence is estimated to 0.5% of birth in France. A study of the literature shows that congenital cataract is idiopathic in 50% of cases, hereditary forms representing 25% of cases. Other causes of congenital cataract are represented by viral embryofoetop
PMID 24309025

Japanese Journal

Antenatal diagnosis of Lowe syndrome

SETHI Sidharth Kumar,LUNARDI Joel,KABRA Madhulika,DEKA Deepika,BAGGA Arvind
Clinical and experimental nephrology 14(3), 296-297, 2010-06-01
NAID 10027706513

OCRL1遺伝子異常を伴うLowe症候群とDent病 (Dent2) の1例 : −その共通点と差異に関して−

長谷幸治,高島健浩,小野智子,山岡理恵,村上至孝,林正俊
日本小児腎臓病学会雑誌 23(2), 207-213, 2010
… この一つの遺伝子異常が，Dent病とLowe症候群といった表現型の異なる疾患の病因となることは興味深い。 … OCRL1遺伝子の異常は，Lowe症候群例ではexon10のmissense mutation，Dent2症例ではexon5のframe shiftであった。 …
NAID 130000814266

Related Pictures

★リンクテーブル★

リンク元	「加齢男性性腺機能低下症候群」「ロウ症候群」
関連記事	「syndrome」

「加齢男性性腺機能低下症候群」

Oculocerebrorenal syndrome
Classification and external resources
ICD-10	E72.0
ICD-9	270.8
OMIM	309000
DiseasesDB	29146
eMedicine	oph/516
MeSH	D009800
GeneReviews	Lowe Syndrome;

　　[★]

英: Late-onset hypogonadism, Late-onset hypogonadism syndrome, LOH syndrome
同: LOH症候群
関: (X連鎖劣性遺伝疾患で眼症状、神経症状、腎障害を呈する)ロウ症候群, Lowe syndrome

概念

加齢による男性ホルモンの低下によりもたらされる種々の症状を包括した病態

有病率

https://www.aska-pharma.co.jp/pdf/company/report14_4.pdf

遊離testosterone値が8.5 pg/ml未満、かつAMS総得点で中等度あるいは重度の症状を有する場合をLOHと定義

20歳代：0％、30歳代：2.8％、40歳代：5.9％、50歳代：13％、60歳代：25.6％、70歳代：26.6％

症状

骨密度の低下、筋力の低下、体脂肪率の増加、性腺機能低下、抑うつ症状、認知力低下

診断

遊離型テストステロン濃度で判定する。

正常：　≧11.8 pg/ml

境界域：8.5≦　＜11.8 pg/ml

低値：　＜8.5 pg/ml

治療

アンドロゲン補充療法

参考1

アンドロゲン補充療法の適応：LOH症状および徴候を有する40歳以上の男性かつ、血中遊離型テストステロン値が以下の場合

8.5pg/ml未満：ARTを第一に行う
8.5pg/ml以上11.8pg/ml未満：症状や徴候の程度や、ARTのリスクおよび有用性を説明し、治療選択肢の一つとする
11.8pg/ml以上：ARTは行わず、症状に応じて以下の治療を考慮する

性機能症状：PDE5阻害薬
精神・心理症状：精神神経科医・心療内科医と相談し、抗うつ薬・抗不安薬を投与する
身体症状：骨粗鬆症に対しては専門家と相談し薬物療法、筋力低下に対しては生活習慣の改善などを指導する

アンドロゲン補充療法の除外基準

前立腺がん
治療前PSAが2.0ng/ml以上：ただし、2.0ng/ml以上4.0ng/ml未満の場合は慎重に検討し治療する
中等度以上の前立腺肥大症
乳がん
多血症
重度の肝機能障害
重度の腎機能不全
うっ血性心不全
重度の高血圧
夜間睡眠時無呼吸

プロトコール：(1)～(3)のいずれか

(1)エナント酸テストステロン1回125mgを2～3週毎に、あるいは1回250mgを3～4週毎に筋注する
(2)胎盤性性腺刺激ホルモン(hCG)1回3,000～5,000単位を週1～2回、あるいは2週間毎に筋注する．
(3)男性ホルモン軟膏1回3gを1日1～2 回陰嚢皮膚に塗布(1回3mgテストステロン相当)

参考

1. 加齢男性性腺機能低下症候群（LOH症候群）診療の手引き

https://www.urol.or.jp/info/data/gl_LOH.pdf

「ロウ症候群」

　　[★]

英: Lowe syndrome, Lowe's syndrome
同: 眼脳腎症候群 oculocerebrorenal syndrome、ロウ症候群、Lowe症候群、ロウ-テリー-マックラクラン症候群 Lowe-Terrey-MacLachlan syndrome、oculocerebrorenal syndrome of Lowe
関: (加齢による男性ホルモンの低下によりもたらされる種々の症状を包括した病態)ロー症候群 LOH症候群 LOH syndrome = 加齢男性性腺機能低下症候群

遺伝

伴性劣性遺伝

X連鎖劣性遺伝

症候

神経症状：知能障害、筋緊張低下、行動障害、痙攣
眼症状　：白内障、緑内障
腎症状　：蛋白尿、汎アミノ酸尿　→　尿細管アシドーシス、腎性くる病

「syndrome」

　　[★]

n.

症候群

[pmid17494094-1] Vilasi A, Cutillas PR, Maher AD et al. (August 2007). "Combined proteomic and metabonomic studies in three genetic forms of the renal Fanconi syndrome". Am. J. Physiol. Renal Physiol. 293 (2): F456–67. doi:10.1152/ajprenal.00095.2007. PMID 17494094.

[2] Loi M. Lowe Syndrome. Orphanet Journal of Rare Diseases 2006,1:16

[3] Kanık A, Kasap-Demir B, Ateşli R, Eliaçık K, Yavaşcan O, Helvacı M (2013) A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome. The Turkish Journal of Pediatrics 55(1):82-85

[Hagemann2012-4] Hagemann N, Hou X, Goody RS, Itzen A, Erdmann KS (2012) Crystal structure of the Rab binding domain of OCRL1 in complex with Rab8 and functional implications of the OCRL1/Rab8 module for Lowe syndrome. Small GTPases 3(2):107-10. doi: 10.4161/sgtp.19380

[Luo2012-5] Luo N, West CC, Murga-Zamalloa CA, Sun L, Anderson RM, Wells CD, Weinreb RN, Travers JB, Khanna H, Sun Y (2012) OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome. Hum Mol Genet 21(15):3333-3344 doi: 10.1093/hmg/dds163

[Rbaibi2012-6] Rbaibi Y, Cui S, Mo D, Carattino M, Rohatgi R, Satlin LM, Szalinski CM, Swanhart LM, Fölsch H, Hukriede NA, Weisz OA. OCRL1 modulates cilia length in renal epithelial cells. Traffic 13(9):1295-305. doi: 10.1111/j.1600-0854.2012.01387.x

[7] Lowe CU, Terrey M, MacLachlan EA; Terrey; MacLachlan (1952). "Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity". A.M.A. American journal of diseases of children 83 (2): 164–84. PMID 14884753.

[8] synd/3512 at Who Named It?

匿名

検索

案内

案内

Lowe syndrome