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a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

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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）』「2014/05/08 06:47:25」(JST)

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Denys–Drash syndrome (DDS) or Drash syndrome is very rare disorder or syndrome characterized by gonadal dysgenesis, nephropathy and Wilms tumor.

Etiology

The cause of DDS is most commonly (96% of patients) an abnormality in the WT1 gene (Wilms tumor suppressor gene). These abnormalities include changes in certain exons (9 and 8) and mutations in some alleles of the WT1 gene. Genetically, the syndrome is due to mutations in the Wilms tumor suppressor gene, WT1, is on chromosome 11 (11p13). These mutations are usually found in exons 8 or 9 but at least one has been reported in exon 4.^[1]

Presentation and clinical course

The presenting characteristics of DDS include loss of playfulness, decreased appetite, weight loss, growth delay, abnormal skeletal development, insomnia, abdominal pain, constipation, and anuria.

Clinically, Denys–Drash is characterized by the triad of pseudohermaphroditism, mesangial renal sclerosis, and Wilms tumor. The condition first manifests as early nephrotic syndrome and progresses to mesangial renal sclerosis and ultimately renal failure, usually within the first three years of life.

History

P.Denys^[2] and Allan L. Drash^[3] first described the syndrome.

External links

00527 at CHORUS

References

^ da Silva TE, Nishi MY, Costa EM, et al. (August 2011). "A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys–Drash syndrome". Pediatr. Nephrol. 26 (8): 1311–5. doi:10.1007/s00467-011-1847-4. PMID 21559934.
^ Denys P, Malvaux P, Van Den Berghe H, Tanghe W, Proesmans W (1967). "[Association of an anatomo-pathological syndrome of male pseudohermaphroditism, Wilms' tumor, parenchymatous nephropathy and XX/XY mosaicism]". Arch. Fr. Pediatr. (in French) 24 (7): 729–739. PMID 4292870.
^ Drash A, Sherman F, Hartmann WH, Blizzard RM (1970). "A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease". J. Pediatr. 76 (4): 585–593. doi:10.1016/S0022-3476(70)80409-7. PMID 4316066.

UpToDate Contents

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1. 先天性乳児ネフローゼ症候群 congenital and infantile nephrotic syndrome
2. ウィルムス腫瘍の症状、診断、および病期分類 presentation diagnosis and staging of wilms tumor
3. 外陰部異常を有する幼児の評価 evaluation of the infant with ambiguous genitalia
4. 外陰部異常を有する幼児のマネージメント management of the infant with ambiguous genitalia
5. ウィルムス腫瘍の治療および予後 treatment and prognosis of wilms tumor

English Journal

Glomerular epithelial cell phenotype in diffuse mesangial sclerosis: a report of 2 cases with markedly increased urinary podocyte excretion.

Ikezumi Y1, Suzuki T2, Karasawa T2, Kaneko U2, Yamada T2, Hasegawa H2, Nagata M3, Saitoh A2.
Human pathology.Hum Pathol.2014 Aug;45(8):1778-83. doi: 10.1016/j.humpath.2014.03.017. Epub 2014 Apr 18.
We report 2 cases of diffuse mesangial sclerosis (DMS) accompanied by severe podocyte excretion in urine. Patient 1 was a 9-day-old girl with a WT1 mutation who developed Wilms tumor at 6 months of age and was subsequently diagnosed with Denys-Drash syndrome. Patient 2 was a 1-year-old boy without a
PMID 24856573

Clinical features and an atypical WT1 mutant site in a child with incomplete Denys-Drash syndrome.

Wang HY, Yue ZH, Sun LZ1, Mo JC, Mo Y, Sun JJ.
Asian journal of andrology.Asian J Androl.2014 Jul-Aug;16(4):647-9. doi: 10.4103/1008-682X.125396.
PMID 24625882

Denys-Drash syndrome, septated vagina and low level of anti-Mullerian hormone in male neonate.

Lee HJ, Yeom JS, Park JS, Park ES, Seo JH, Lim JY, Park CH, Woo HO, Youn HS.
Annals of pediatric endocrinology & metabolism.Ann Pediatr Endocrinol Metab.2014 Jun;19(2):100-3. doi: 10.6065/apem.2014.19.2.100. Epub 2014 Jun 30.
There is a wide variety of genital abnormalities observed in patients with Denys-Drash syndrome (DDS). WT1 is thought to influence the genes related to genital development and mutations in this gene have been associated with DDS. DDS should be considered in the differential diagnosis of newborns wit
PMID 25077094

Japanese Journal

WT1遺伝子異常を検索したDenys-Drash症候群の1例

宮地充,杉山由加里,柳生茂希,菊地顕,土屋邦彦,家原知子,西田眞佐志,小野滋,出口英一,岩井直躬,細井創
小児がん : 小児悪性腫瘍研究会記録 45(3), 312-316, 2008-09-25
… 症例は10か月の男児.泌尿生殖器奇形,ネフローゼ症候群,腎腫瘍を合併しDenys-Drash症候群と考えられ,体細胞でWT1遺伝子のエクソン9に点突然変異を認めた.腎腫瘍は病理検査でWilms腫瘍と診断され,腫瘍のWT1遺伝子の検索では,体細胞の変異に加えWT1遺伝子の欠失を認め,腫瘍の発症に寄与したと考えられた.体細胞でWT1遺伝子異常を伴う症例では早期のWilms腫瘍の発症に注意が必要である. …
NAID 110007171737

ウイルムス腫瘍発症時は腎症状なく治療終了後に末期腎不全に至ったDenys-Drash症候群の1例

設楽利二,丸山健一,鈴木則夫,濱崎祐子,坂井智行,池田昌弘,有安大典,長谷川行洋,森川征彦,池田均
小児がん : 小児悪性腫瘍研究会記録 45(2), 162-165, 2008-05-25
… 月にてウイルムス腫瘍発症.腫瘍発症時は尿蛋白(-)であったが,肺転移巣再発治療終了後の8歳時に蛋白尿(3+)出現しその後腎不全が進行.遺伝子解析では,WT1遺伝子の変異が認められ,臨床所見とあわせDenys-Drash症候群と診断した.14歳1か月時に母親からの腎移植を施行し,再発後現在まで8年6か月再再発の所見無く経過良好である.ウイルムス腫瘍患者では腎不全の危険因子を持つ症例の早期の把握が望まれる …
NAID 110007171688

家族性 Denys-Drash 症候群に発症し Angiotensin II Receptor Blocker が奏効している巣状糸球体硬化症の1女児例

熊谷直憲,菅原典子,西野美奈子,西尾利之,森本哲司,根東義明,土屋滋
日本小児腎臓病学会雑誌 = Japanese journal of pediatric nephrology 21(1), 65-70, 2008-04-15
… 父がDenys-Drash症候群であり，26歳時より腎機能低下が進行し，31歳時に血液透析が導入された。 … Denys-Drash症候群に生じた巣状糸球体硬化症に対してARBが有効である可能性およびWT1遺伝子異常症の多様性を示唆する症例であると考えられた。 …
NAID 10024846609