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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）』「2016/11/26 06:48:25」(JST)

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Pendred syndrome or Pendred disease is a genetic disorder leading to congenital bilateral (both sides) sensorineural hearing loss and goitre with euthyroid or mild hypothyroidism (decreased thyroid gland function). There is no specific treatment, other than supportive measures for the hearing loss and thyroid hormone supplementation in case of hypothyroidism. It is named after Dr Vaughan Pendred (1869–1946), the English doctor who first described the condition in an Irish family living in Durham in 1896.^[1]^[2] It accounts for 7.5% of all cases of congenital deafness.^[3]

Signs and symptoms

The hearing loss of Pendred's syndrome is often, although not always, present from birth, and language acquisition may be a significant problem if deafness is severe in childhood. The hearing loss typically worsens over the years, and progression can be step-wise and related to minor head trauma. In some cases, language development worsens after head injury, demonstrating that the inner ear is sensitive to trauma in Pendred syndrome; this is as a consequence of the widened vestibular aqueducts usual in this syndrome.^[3] Vestibular function varies in Pendred syndrome and vertigo can be a feature of minor head trauma. A goitre is present in 75% of all cases.^[3]

Diagnosis

Audiometry (measuring ability to hear sounds of a particular pitch) is usually abnormal, but the findings are not particularly specific and an audiogram is not sufficient to diagnose Pendred's syndrome. A thyroid goitre may be present in the first decade and is usual towards the end of the second decade. MRI scanning of the inner ear usually shows widened or large vestibular aqueducts with enlarged endolymphatic sacs and may show abnormalities of the cochleae that is known as Mondini dysplasia.^[3] Genetic testing to identify the pendrin gene usually establishes the diagnosis. If the condition is suspected, a "perchlorate discharge test" is sometimes performed. This test is highly sensitive, but may also be abnormal in other thyroid conditions.^[3] If a goitre is present, thyroid function tests are performed to identify mild cases of thyroid dysfunction even if they are not yet causing symptoms.^[4]

Genetics

Pendred syndrome has an autosomal recessive pattern of inheritance.

Pendred syndrome inherits in an autosomal recessive manner, meaning that one would need to inherit an abnormal gene from each parent to develop the condition. This also means that a sibling of a patient with Pendred's syndrome has a 25% chance of also having the condition if the parents are unaffected carriers.

It has been linked to mutations in the PDS gene, which codes for the pendrin protein (solute carrier family 26, member 4, SLC26A4). The gene is located on the long arm of chromosome 7 (7q31).^[5]^[6] Mutations in the same gene also cause enlarged vestibular aqueduct syndrome (EVA or EVAS), another congenital cause of deafness; specific mutations are more likely to cause EVAS, while others are more linked with Pendred syndrome.^[7]

Pathophysiology

SLC26A4 can be found in the cochlea (part of the inner ear), thyroid and the kidney. In the kidney, it participates in the secretion of bicarbonate. However, Pendred's syndrome is not known to lead to kidney problems.^[8] It functions as an iodide/chloride transporter.^{[citation needed]} In the thyroid, this leads to reduced organification of iodine (i.e. its incorporation into thyroid hormone).^[5]

Treatment

No specific treatment exists for Pendred syndrome. Speech and language support and cochlear implants may improve language skills.^[4] If thyroid hormone levels are decreased, thyroid hormone supplements may be required. Patients are advised to take precautions against head injury.^[4]

References

^ Pendred V (1896). "Deaf-mutism and goitre". Lancet. 2 (3808): 532. doi:10.1016/S0140-6736(01)74403-0.
^ Pearce JM (2007). "Pendred's syndrome". Eur. Neurol. 58 (3): 189–90. doi:10.1159/000104724. PMID 17622729.
^ ^a ^b ^c ^d ^e Reardon W, Coffey R, Phelps PD, et al. (July 1997). "Pendred syndrome--100 years of underascertainment?" (PDF). QJM. 90 (7): 443–7. doi:10.1093/qjmed/90.7.443. PMID 9302427.
^ ^a ^b ^c National Institute on Deafness and Other Communication Disorders (October 2006). "Pendred Syndrome". Retrieved 2008-05-05.
^ ^a ^b Sheffield VC, Kraiem Z, Beck JC, et al. (April 1996). "Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification". Nat. Genet. 12 (4): 424–6. doi:10.1038/ng0496-424. PMID 8630498.
^ Coyle B, Coffey R, Armour JA, et al. (April 1996). "Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4". Nat. Genet. 12 (4): 421–3. doi:10.1038/ng0496-421. PMID 8630497.
^ Azaiez H, Yang T, Prasad S, et al. (December 2007). "Genotype-phenotype correlations for SLC26A4-related deafness". Hum. Genet. 122 (5): 451–7. doi:10.1007/s00439-007-0415-2. PMID 17690912.
^ Royaux IE, Wall SM, Karniski LP, et al. (March 2001). "Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion". Proc. Natl. Acad. Sci. U.S.A. 98 (7): 4221–6. doi:10.1073/pnas.071516798. PMC 31206. PMID 11274445.

External links

GeneReviews/NCBI/NIH/UW entry on Pendred Syndrome/DFNB4
NCBI Genes and Diseases

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 小児における先天性および後天性の甲状腺腫 congenital and acquired goiter in children
2. 小児における聴覚障害：病因 hearing impairment in children etiology
3. 小児における聴覚障害：評価 hearing impairment in children evaluation
4. 先天性甲状腺機能低下症の治療および予後 treatment and prognosis of congenital hypothyroidism
5. 先天性甲状腺機能低下症の臨床的特徴および検出 clinical features and detection of congenital hypothyroidism

English Journal

Papillary thyroid carcinoma in one of identical twin patients with Pendred syndrome.

Sakurai K, Hata M, Hishinuma A, Ushijima R, Okada A, Taeda Y, Arihara Z, Fukazawa H, Takahashi K.SourceDepartment of Endocrinology and Metabolism, KKR Suifu Hospital, Mito 311-4141, Japan.
Endocrine journal.Endocr J.2013 Mar 2. [Epub ahead of print]
Pendred syndrome is an autosomal recessive disorder characterized by sensorineural deafness, a partial defect in iodide organification, and dyshormonogenetic goiter. Several cases of Pendred syndrome with follicular thyroid carcinomas were reported previously. Here we report identical twin patients
PMID 23459462

Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients.

de Moraes VC, dos Santos NZ, Ramos PZ, Svidnicki MC, Castilho AM, Sartorato EL.SourceCenter of Molecular Biology and Genetic Engineering (CBMEG), Molecular Biology Laboratory, State University of Campinas - UNICAMP, Campinas, São Paulo, Brazil. moraes.van@gmail.com
International journal of pediatric otorhinolaryngology.Int J Pediatr Otorhinolaryngol.2013 Mar;77(3):410-3. doi: 10.1016/j.ijporl.2012.11.042. Epub 2012 Dec 27.
The SLC26A4 gene has been described as the second gene involved in most cases of sensorineural non-syndromic hearing loss, since the first is the GJB2 gene. Recessive mutations in the SLC26A4 gene encoding pendrin, an anion transporter, are responsible for non-syndromic hearing loss associated with
PMID 23273637

Japanese Journal

SLC26A4に遺伝子変異を認めた前庭水管拡張症の2例

中西啓,岩崎聡,今井篤志,林理佐子,水田邦博,峯田周幸
耳鼻咽喉科臨床 102(9), 713-718, 2009-09-01
… Pendred syndrome and nonsyndromic hearing loss with enlarged vestibular aqueduct (NSEVA) are caused by mutations of SLC26A4, which encodes Pendrin. … Clinical evaluation and the results of mutation analysis suggested that case 1 was likely to have typical Pendred syndrome. …
NAID 10025097109

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis

Anwar Saima,Riazuddin Saima,Ahmed Zubair M. [他]
Journal of human genetics 54(5), 266-270, 2009-05
NAID 40016607569

Related Pictures

★リンクテーブル★

リンク元	「ペンドレッド症候群」
関連記事	「syndrome」

「ペンドレッド症候群」

Pendred syndrome
	The cochlea normally has 2 & a half turns, but, in pendred syndrome, there can be 1 & a half turn only because of abnormal dilatation of an endolymphatic sack.
Classification and external resources
Specialty	endocrinology
ICD-10	E07.1
OMIM	274600
DiseasesDB	9771
GeneReviews	Pendred Syndrome/DFNB4;
	[edit on Wikidata]

　　[★]

英: Pendred syndrome
同: Pendred症候群、甲状腺腫聾唖症候群 goiter-deaf mutism syndrome

概念

甲状腺腫、高度感音難聴、過塩素酸塩放出試験陽性を三徴とする常染色体劣性遺伝疾患
先天性難聴の最も多い原因疾患の一つで、遺伝性聾(heredidary deafness)の約10%を占める。(1)

歴史

1896年ペンドレッド(Vaughan Pendred、1869-1946, 外科, 英)が聾唖と甲状腺腫を合併する姉妹例を報告。

疫学

2-3人/10万人

遺伝形式

常染色体劣性遺伝(SOTO.191)

病因

SLC26A4遺伝子(PDS, perdin)の変異(SOTO.191)

locus：はDFNB4 locus(7q11-2)に存在
発現部位：甲状腺、内耳、腎臓で発現(1)

腎臓では皮質集合管でchloride-bicarbonate exchangerとして機能しているが、病的な意義は不明。(2)
内耳：内リンパ液の組成の調整に関わっている。難聴との関わりは不明。(2)

機能：chloride-iodine co-transporter(2)。perdinが無くてもヨードを甲状腺濾胞細胞に輸送できるが、効率が低下する(2)。perdinの変異により、ヨードの取り込みが低下し、ヨードの有機化が低下する(2)。

SLC26A4は前庭水管の拡張と関連しており、片側性/両側性、いずれのばあいもありうる(NEL.2621)。
聴力の低下：原因不明

症状

感音性難聴

出生時からの両側性の難聴。(SOTO.191)
高音域で難聴は高度。低音域では難聴の程度は様々。(NEL.2621)
出生児から難聴が出現するが、話し言葉習得後、後天的、進行性に難聴が出現することも普通にある。(NEL.2621)

甲状腺

甲状腺腫大

ヨウ素の有機化障害により生ずる
ヨードの摂取量に依存しており、十分に摂取されている場合には症状が出ない(ex. Japan)。

甲状腺機能：正常 or 軽度の甲状腺機能低下

その他

知能指数は正常。発育障害はない。
甲状腺内のペルオキシダーゼ活性の減少はない。

診断・検査

三徴：甲状腺腫、高度感音難聴、過塩素酸塩放出試験陽性(SOTO.191)
診察

感音性難聴、甲状腺腫

画像検査

CT (図：NEL.2622)

CTによる前庭水管の拡張(SOTO.191)。両側性(NEL.2621)に拡張が見られる。蝸牛の低形成はある場合も、無い場合もある(NEL.2621)。
蝸牛の奇形を伴っていることがある(Mondini cochlea)。普通は蝸牛は2.5回転するが、Mondini cochleaでは1.5回転しかしない。(1)

甲状腺機能

ヨードの有機化障害を呈する
塩素酸塩放出試験ロダンカリ放出試験 perchlorate discharge test：陽性

過塩素酸による無機ヨード放出試験

甲状腺ペルオキシダーゼ活性：正常
過酸化水素産生能：正常

治療

甲状腺腫に対して、ヨードカリウムの投与

過剰量のヨードが甲状腺でのヨードの不足を補償する。(2)

参考

文献

1. Pearce JM. et al., Pendred's syndrome., Eur Neurol. 2007;58(3):189-90

PMID 17622729

2 Arwert LI et al., Goitre and hearing impairment in a patient with Pendred syndrome, Neth J Med. 2008 Mar;66(3):118-20

PMID 18349467

URL

http://en.wikipedia.org/wiki/Pendred_syndrome http://www.nidcd.nih.gov/health/hearing/pendred.asp

「syndrome」

　　[★]

n.

症候群

[Pendred-1] Pendred V (1896). "Deaf-mutism and goitre". Lancet. 2 (3808): 532. doi:10.1016/S0140-6736(01)74403-0.

[Pearce-2] Pearce JM (2007). "Pendred's syndrome". Eur. Neurol. 58 (3): 189–90. doi:10.1159/000104724. PMID 17622729.

[Reardon-3] Reardon W, Coffey R, Phelps PD, et al. (July 1997). "Pendred syndrome--100 years of underascertainment?" (PDF). QJM. 90 (7): 443–7. doi:10.1093/qjmed/90.7.443. PMID 9302427.

[NIDCD-4] National Institute on Deafness and Other Communication Disorders (October 2006). "Pendred Syndrome". Retrieved 2008-05-05.

[Sheffield-5] Sheffield VC, Kraiem Z, Beck JC, et al. (April 1996). "Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification". Nat. Genet. 12 (4): 424–6. doi:10.1038/ng0496-424. PMID 8630498.

[6] Coyle B, Coffey R, Armour JA, et al. (April 1996). "Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4". Nat. Genet. 12 (4): 421–3. doi:10.1038/ng0496-421. PMID 8630497.

[7] Azaiez H, Yang T, Prasad S, et al. (December 2007). "Genotype-phenotype correlations for SLC26A4-related deafness". Hum. Genet. 122 (5): 451–7. doi:10.1007/s00439-007-0415-2. PMID 17690912.

[8] Royaux IE, Wall SM, Karniski LP, et al. (March 2001). "Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion". Proc. Natl. Acad. Sci. U.S.A. 98 (7): 4221–6. doi:10.1073/pnas.071516798. PMC 31206. PMID 11274445.

v t e Genetic disorder, membrane: Solute carrier disorders

1-10	SLC1A3 Episodic ataxia 6 SLC2A1 De Vivo disease SLC2A5 Fructose malabsorption SLC2A10 Arterial tortuosity syndrome SLC3A1 Cystinuria SLC4A1 Hereditary spherocytosis 4/Hereditary elliptocytosis 4 SLC4A11 Congenital endothelial dystrophy type 2 Fuchs' dystrophy 4 SLC5A1 Glucose-galactose malabsorption SLC5A2 Renal glycosuria SLC5A5 Thyroid dyshormonogenesis type 1 SLC6A19 Hartnup disease SLC7A7 Lysinuric protein intolerance SLC7A9 Cystinuria

11-20	SLC11A1 Crohn's disease SLC12A3 Gitelman syndrome SLC16A1 HHF7 SLC16A2 Allan–Herndon–Dudley syndrome SLC17A5 Salla disease SLC17A8 DFNA25

21-40	SLC26A2 Multiple epiphyseal dysplasia 4 Achondrogenesis type 1B Recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia SLC26A4 Pendred syndrome SLC35C1 CDOG 2C SLC39A4 Acrodermatitis enteropathica SLC40A1 African iron overload

see also solute carrier family

v t e Congenital endocrine disorders (Q89.1–Q89.2, 759.1–759.2)

Pituitary	Congenital hypopituitarism

Thyroid	Thyroid disease Persistent thyroglossal duct Thyroglossal cyst Congenital hypothyroidism Thyroid dysgenesis Thyroid dyshormonogenesis Pendred syndrome

Parathyroid	Congenital absence of parathyroid

Adrenal	Absent adrenal gland

匿名

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案内

案内

Pendred syndrome