スミス・レムリ・オピッツ症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- the 18th letter of the Roman alphabet (同)r
PrepTutorEJDIC
- (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
- resistance / 17歳以下父兄同伴映画の表示 / rook
UpToDate Contents
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English Journal
- Genotype-based databases for variants causing rare diseases.
- Lanthaler B1, Wieser S2, Deutschmann A1, Schossig A1, Fauth C1, Zschocke J1, Witsch-Baumgartner M3.
- Gene.Gene.2014 Oct 15;550(1):136-40. doi: 10.1016/j.gene.2014.08.016. Epub 2014 Aug 8.
- Inherited diseases are the result of DNA sequence changes. In recessive diseases, the clinical phenotype results from the combined functional effects of variants in both copies of the gene. In some diseases there is often considerable variability of clinical presentation or disease severity, which m
- PMID 25111118
- The sterol-based transcriptional control of human 7-dehydrocholesterol reductase (DHCR7): Evidence of a cooperative regulatory program in cholesterol synthesis.
- Prabhu AV1, Sharpe LJ1, Brown AJ2.
- Biochimica et biophysica acta.Biochim Biophys Acta.2014 Oct;1842(10):1431-9. doi: 10.1016/j.bbalip.2014.07.006. Epub 2014 Jul 15.
- The enzyme 7-dehydrocholesterol reductase (DHCR7) catalyzes the final step of cholesterol synthesis via the Kandutsch-Russell pathway, and is crucial in maintaining cellular cholesterol levels. Its absence leads to the devastating fetal developmental disorder Smith-Lemli-Opitz Syndrome (SLOS). How t
- PMID 25048193
- Feeding impairments associated with plasma sterols in smith-lemli-opitz syndrome.
- Merkens MJ1, Sinden NL2, Brown CD2, Merkens LS3, Roullet JB3, Nguyen T4, Steiner RD5.
- The Journal of pediatrics.J Pediatr.2014 Oct;165(4):836-841.e1. doi: 10.1016/j.jpeds.2014.06.010. Epub 2014 Jul 16.
- OBJECTIVE: To quantitatively evaluate feeding impairment in children with Smith-Lemli-Opitz syndrome (SLOS) and to correlate feeding impairment with clinical and biochemical indices of disease severity.STUDY DESIGN: The study subjects were 26 children with SLOS ranging in age from 0.4 to 19 years.
- PMID 25039049
Japanese Journal
- Clinical Facial Nerve Clinic Survey
- 川口 和浩,稲村 博雄,前山 裕之,甲州 秀浩,高橋 伸明,阿部 靖弘,石井 健一,古川 孝俊,青柳 優
- 耳鼻咽喉科臨床 補冊 130, 18-25, 2011
- … Of studied 2,360 subjects with facial nerve disease between 1995 and 2009, 64% were diagnosed with Bell's palsy (BP), Ramsay Hunt syndrome (RHS) and Zoster sine herpete (ZSH). … RSH and ZSH were less cumulatively curable than BP. …
- NAID 130004833946
- RSH/Smith-Lemli-Opitz syndrome : mutations and metabolic morphogenesis
- RSH/SLO ('Smith-Lemli-Opitz') syndrome : Historical, genetic, and developmental considerations
★リンクテーブル★
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- 英
- Smith-Lemli-Opitz syndrome, SLOS
- 同
- Smith-Lemli-Opitz症候群 SLO症候群 SLO syndrome、RSH症候群 RSH syndrome
概念
病因
- ミクロソーム酵素である7-デヒドロコレステロール還元酵素(7 dehyrocholesterol-Δ7 reductase(NEL.588), sterol Δ7-reductase(NEL.2401), DHCR7)の欠損 → コレステロール合成の最終段階に必要。
- 遺伝子座:7q32.1?, 11q12-q13(NEL.2401)?
疫学
- 出生4万人対1
- 罹患率:1/20,000-60,000 births among whites (NEL.589)
- 70%が男性
遺伝形式
病変形成&病理
症候
- 成長遅滞、小頭症、眼瞼下垂、前向き鼻孔(anteverted nares)、broad alveolar ridges、第2-3趾のsyndactyly、重度の精神遅滞、imcomplete development of genitals, high forehead, plyloric stenosis
- ♂:genital ambiguity or complete sex reversal with famale external genital
- ♀:normal genitals.
診断
検査
治療
- 生後二,三週間の食事療法により疾患の経過を良くする
- administration of vegetable oil supplemented by large amounts of cholesterol
予後
USMLE
参考
- http://emedicine.medscape.com/article/949125-overview
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- 英
- RSH syndrome
- 関
- スミス・レムリ・オピッツ症候群
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