関: BOR syndrome

WordNet

a part of a forked or branching shape; "he broke off one of the branches" (同)leg, ramification
divide into two or more branches so as to form a fork; "The road forks" (同)ramify, fork, furcate, separate
a division of a stem, or secondary stem arising from the main stem of a plant
a division of some larger or more complex organization; "a branch of Congress"; "botany is a branch of biology"; "the Germanic branch of Indo-European languages" (同)subdivision, arm
a stream or river connected to a larger one
a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
a dialect of the Chiwere language spoken by the Oto (同)Otoe
a member of the Siouan people inhabiting the valleys of the Platte and Missouri rivers in Nebraska (同)Otoe

PrepTutorEJDIC

『枝』 / 『支流』,支脈,支線;分家 / 『支店』,『支部』,支局 / (学問の)『部門』,分科 / 枝を出す,枝を広げる / (川・道・鉄道などが)分岐する
(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
腎臓の

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/02/11 17:35:01」(JST)

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Branchio-oto-renal syndrome (BOR), also known as branchiootorenal syndrome or BOR syndrome, is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. It often has also been described as Melnick-Fraser syndrome.^[1]^[2]

Symptoms/signs

The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure. Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck.^[3]

Cause

The cause of branchio-oto-renal syndrome are mutations in genes, EYA1, SIX1, and SIX5 (approximately 40 percent of those born with this condition have a mutation in the EYA1 gene).^[3]^[4]

Mechanism

The genetics of branchio-oto-renal syndrome indicate it is inherited in an autosomal dominant manner, and results from a mutation in the EYA1 gene.^[5]Autosomal dominant inheritance indicates that the defective gene responsible for a disorder is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder. This gene is involved in many facets of embryonic development and is important in the normal formation of many organs and tissues, including the ears, and kidneys before birth.^{[medical citation needed]}

Diagnosis

The diagnosis of this syndrome can be done via the test Branchiootorenal syndrome via the SIX5 Gene whose purpose is mutation confirmation and risk assessment (screening).^[6]

Treatment

Otitis media -acute

The treatment of branchio-oto-renal syndrome is done per each affected area (or organ). For example, a person with hearing problems should have appropriate supports and prompt attention for any inflammation of the ear.^[7]^[8]

A specialist should observe any kidney problems. Surgical repair may be needed depending on the degree of a defect or problem, whether a transplant or dialysis is needed.^[9]

Epidemiology

The epidemiology of branchio-oto-renal syndrome has it with a prevalence of 1/40,000 in Western countries.A 2014 review found 250 such cases in the country of Japan^[10]

References

^ "Branchiootorenal syndrome". Genetics Home Reference. 2015-11-23. Retrieved 2015-11-29.
^ "Branchiootorenal syndrome | Disease | Overview | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2015-11-29.
^ ^a ^b "Branchio Oto Renal Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2015-11-29.
^ Little, Melissa Helen (2015-08-06). Kidney Development, Disease, Repair and Regeneration. Academic Press. p. 269. ISBN 9780128004388.
^ Online Mendelian Inheritance in Man (OMIM) Branchiootorenal Syndrome 1; BOR1 -113650
^ "Branchiootorenal syndrome via the SIX5 Gene - Tests - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2015-11-29.
^ Niparko, John K. (2009-01-01). Cochlear Implants: Principles & Practices. Lippincott Williams & Wilkins. p. 53. ISBN 9780781777490.
^ Smith, Richard JH (1993-01-01). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora JH; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C., eds. Branchiootorenal Spectrum Disorders. Seattle (WA): University of Washington, Seattle. PMID 20301554. |updated, 2015|
^ Izzedine, Hassane; Tankere, Frederic; Launay-Vacher, Vincent; Deray, Gilbert (2004-02-01). "Ear and kidney syndromes: Molecular versus clinical approach". Kidney International. 65 (2): 369–385. doi:10.1111/j.1523-1755.2004.00390.x. ISSN 0085-2538.
^ Morisada, Naoya; Nozu, Kandai; Iijima, Kazumoto (2014-06-01). "Branchio-oto-renal syndrome: Comprehensive review based on nationwide surveillance in Japan". Pediatrics International. 56 (3): 309–314. doi:10.1111/ped.12357. ISSN 1442-200X.

UpToDate Contents

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1. Renal hypodysplasia
2. 耳の先天異常 congenital anomalies of the ear
3. 先天性腎尿路異常（CAKUT）の概要 overview of congenital anomalies of the kidney and urinary tract cakut
4. 小児における聴覚障害：病因 hearing impairment in children etiology
5. 下顎、口、口腔、および咽頭の先天異常 congenital anomalies of the jaw mouth oral cavity and pharynx

English Journal

Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.

Brophy PD, Alasti F, Darbro BW, Clarke J, Nishimura C, Cobb B, Smith RJ, Manak JR.SourceDepartment of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, 52242, USA.
Human genetics.Hum Genet.2013 Dec;132(12):1339-50. doi: 10.1007/s00439-013-1338-8. Epub 2013 Jul 13.
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial arch anomalies, hearing loss and renal dysmorphology. Although haploinsufficiency of EYA1 and SIX1 are known to cause BOR, copy number variation analysis has only been performed on a limited number of BOR
PMID 23851940

Mouse Hoxa2 mutations provide a model for microtia and auricle duplication.

Minoux M, Kratochwil CF, Ducret S, Amin S, Kitazawa T, Kurihara H, Bobola N, Vilain N, Rijli FM.SourceFriedrich Miescher Institute for Biomedical Research, Maulbeerstrasse 66, CH-4058 Basel, Switzerland.
Development (Cambridge, England).Development.2013 Nov;140(21):4386-97. doi: 10.1242/dev.098046. Epub 2013 Sep 25.
External ear abnormalities are frequent in newborns ranging from microtia to partial auricle duplication. Little is known about the molecular mechanisms orchestrating external ear morphogenesis. In humans, HOXA2 partial loss of function induces a bilateral microtia associated with an abnormal shape
PMID 24067355

Branchio-Otic Syndrome Caused by a Genomic Rearrangement: Clinical Findings and Molecular Cytogenetic Studies in a Patient with a Pericentric Inversion of Chromosome 8.

Schmidt T, Bierhals T, Kortüm F, Bartels I, Liehr T, Burfeind P, Shoukier M, Frank V, Bergmann C, Kutsche K.SourceInstitute of Human Genetics, University of Göttingen, Göttingen, Germany.
Cytogenetic and genome research.Cytogenet Genome Res.2013 Oct 11. [Epub ahead of print]
Branchio-oto-renal (BOR) syndrome is an autosomal dominantly inherited developmental disorder, which is characterized by anomalies of the ears, the branchial arches and the kidneys. It is caused by mutations in the genes EYA1,SIX1 and SIX5. Genomic rearrangements of chromosome 8 affecting the EYA1 g
PMID 24135068

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. … 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 130003386116

乳突洞に進展した耳前部?孔による難治性中耳炎例

中安一孝,佐々木豊,竹山昌孝,石川竜司
耳鼻咽喉科臨床. 補冊 = Practica otologica. Suppl. (136), 104-107, 2013-08-01
NAID 10031188273

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Branchio-oto-renal syndrome
	Branchio-oto-renal syndrome has an autosomal dominant pattern of inheritance
Classification and external resources
Specialty	medical genetics
ICD-10	Q87.0
OMIM	113650
DiseasesDB	32599
MeSH	D019280
	[edit on Wikidata]