腎無形成

WordNet

failure of some tissue or organ to develop

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腎臓の

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1. 腎無形成：出生前診断renal agenesis prenatal diagnosis [show details]
…of a dysplastic kidney (aplasia). In the following topic review, the term renal agenesis will be used to refer to absent kidneys resulting from either of these etiologies Renal agenesis may be either unilateral …
2. 先天性腎尿路異常（CAKUT）の概要overview of congenital anomalies of the kidney and urinary tract cakut [show details]
…characterized by hearing loss, branchial cysts and fistulas, ear pits, and renal anomalies including renal aplasia. The majority of cases are caused by mutations in the EYA1 gene with fewer cases due to mutations …
3. 低形成腎renal hypodysplasia [show details]
…such as nutrition during pregnancy. Renal parenchymal malformations include the following : Renal aplasia (agenesis) – Congenital absence of kidney(s). Renal hypoplasia – Congenitally small kidneys …
4. 先天性子宮奇形：臨床症状および診断congenital uterine anomalies clinical manifestations and diagnosis [show details]
…Mullerian defects . Duplex collecting system, horseshoe kidney, pelvic kidney, and unilateral renal agenesis have been associated with an obstructed hemiuterus, obstructed hemivagina, and transverse vaginal …
5. 先天性腎尿路異常（CAKUT）の評価evaluation of congenital anomalies of the kidney and urinary tract cakut [show details]
…to CAKUT either involves both kidneys or occurs in a solitary kidney in the fetus. Bilateral renal agenesis (RA) or severe dysgenesis, bilateral ureteric obstruction, or obstruction of the bladder outlet…

English Journal

A Case of Parasitic Twinning or Caudal Duplication in a Dog.

Grimes JA1, Hespel AM1, Cole RC1, Dillon AR1.
Journal of the American Animal Hospital Association.J Am Anim Hosp Assoc.2018 Jul/Aug;54(4):219-225. doi: 10.5326/JAAHA-MS-6559. Epub 2018 May 14.
PMID 29757668
PMID 29270306

STAR syndrome plus: The first description of a female patient with the lethal form.

Bedeschi MF1, Giangiobbe S1, Paganini L2, Tabano S2, Silipigni R3, Colombo L4, Crippa BL4, Lalatta F1, Guerneri S3, Miozzo M2.
American journal of medical genetics. Part A.Am J Med Genet A.2017 Dec;173(12):3226-3230. doi: 10.1002/ajmg.a.38484. Epub 2017 Oct 31.
PMID 29088509

Japanese Journal

A Case of Branchio-oto-renal Syndrome

, , , ,
耳鼻咽喉科臨床　補冊 140(0), 108-109, 2014
… Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder with branchial anomalies: ear malformation, hearing loss, cervical fistula, and renal anomalies.We experienced a case of BOR syndrome. … A 16-year-old female had bilateral preauricular pits, bilateral hearing loss, left cervical fistula, and right renal aplasia. …
NAID 130004707409

鰓弓耳腎症候群例

桝井貴史,家根旦有,中井義紀 [他],太田一郎,細井裕司
耳鼻咽喉科臨床 107(1), 65-69, 2014
… Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder with branchial anomalies: ear malformation, hearing loss, cervical fistula, and renal anomalies. … A 16-year-old female had bilateral preauricular pits, bilateral hearing loss, left cervical fistula, and right renal aplasia. …
NAID 130003386116

完全内臓逆位に合併した多発奇形の1 例

鈴木淳一,土岐彰,千葉正博,杉山彰英,菅沼理江,田中彩,中山智理,小嶌智美,大澤俊亮,渡井有
日本小児外科学会雑誌 49(7), 1234-1239, 2013
症例は，現在14 歳の女児で，出生前診断で総排泄腔遺残症と診断され，在胎34 週で出生し完全内臓逆位・潜在性二分脊椎・左腎欠損・消化管重複症と診断された．3 歳時に直腸肛門奇形に対する根治術を行い，左側のミューラー管の形成不全とウォルフ管が遺残した結果出来た特殊な瘻管を合併切除した．4 歳時に膵・胆管合流異常症に伴う胆道拡張症を発症し肝外胆管切除，肝管空腸Roux-Y 吻合を行った．また，12 歳 …
NAID 130004897665