Dubin-Johnson syndrome

デュビン・ジョンソン症候群

WordNet

1. 17th President of the United States; was elected vice president and succeeded Lincoln when Lincoln was assassinated; was impeached but acquitted by one vote (1808-1875) (同)Andrew Johnson, President Johnson, President Andrew Johnson
2. 36th President of the United States; was elected vice president and succeeded Kennedy when Kennedy was assassinated (1908-1973) (同)Lyndon Johnson, Lyndon Baines Johnson, LBJ, President Johnson, President Lyndon Johnson
3. English writer and lexicographer (1709-1784) (同)Samuel Johnson, Dr. Johnson
4. a pattern of symptoms indicative of some disease
5. a complex of concurrent things; "every word has a syndrome of meanings"
6. United States artist and proponent of pop art (born in 1930) (同)Jasper Johns

PrepTutorEJDIC

1. (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

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/11/23 01:45:54」(JST)

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Dubin–Johnson syndrome
Classification and external resources
Bilirubin
ICD-10	E80.6
ICD-9	277.4
OMIM	237500
DiseasesDB	3982
MedlinePlus	000242
eMedicine	med/588
Patient UK	Dubin–Johnson syndrome
MeSH	D007566

Dubin–Johnson syndrome is an autosomal recessive disorder that causes an increase of conjugated bilirubin in the serum without elevation of liver enzymes (ALT, AST). This condition is associated with a defect in the ability of hepatocytes to secrete conjugated bilirubin into the bile, and is similar to Rotor syndrome. It is usually asymptomatic but may be diagnosed in early infancy based on laboratory tests.

Pathophysiology

The conjugated hyperbilirubinemia is a result of defective endogenous and exogenous transfer of anionic conjugates from hepatocytes into the bile. Impaired biliary excretion of bilirubin glucuronides is due to a mutation in the canalicular multidrug resistance protein 2 (MRP2). A darkly pigmented liver is due to polymerized epinephrine metabolites, not bilirubin.

Diagnosis

A hallmark of DJS is the unusual ratio between the byproducts of heme biosynthesis.

• Unaffected subjects have a coproporphyrin III to coproporphyrin I ratio of approximately 3–4:1.
• In patients with DJS, this ratio is inverted with coproporphyrin I being 3–4x higher than coproporphyrin III. Analysis of urine porphyrins show a normal level of coproporphyrin but the I isomer accounts for 80% of the total (normally 25%).

In post-mortem autopsy, the liver will have a dark pink or black appearance due to pigment accumulation.

There is plenty of canalicular multi-drug resistant protein that causes bilirubin transfer to bile canaliculi. An isoform of this protein is localized to the apical hepatocyte membrane, allowing transport of glucuronide and glutathione conjugates back into the blood.

High levels of gamma-glutamyl transferase (GGT) help in diagnosing pathologies involving biliary obstruction.

Dubin–Johnson syndrome is similar to Rotor syndrome but can be differentiated in the following ways:

	Rotor syndrome	Dubin–Johnson syndrome
appearance of liver	normal histology and appearance	liver has black pigmentation
gallbladder visualization	gallbladder can be visualized by oral cholecystogram	gallbladder cannot be visualized
total urine coproporphyrin content	high with <70% being isomer 1	normal with >80% being isomer 1 (normal urine contains more of isomer 3 than isomer 1)

Genetics

Dubin–Johnson syndrome has an autosomal recessive pattern of inheritance.

DJS is due to a defect in the multispecific anion transporter (cMOAT) gene (ABC transporter superfamily). It is an autosomal recessive disease and is likely due to a loss of function mutation, since the mutation affects the cytoplasmic / binding domain.

Prognosis

Prognosis is good, and treatment of this syndrome is usually unnecessary. Most patients are asymptomatic and have normal life spans. Some neonates will present with cholestasis. Hormonal contraceptives and pregnancy may lead to overt jaundice and icterus (yellowing of the eyes and skin).

See also

• Jaundice
• Gilbert syndrome
• Crigler–Najjar syndrome
• Rotor syndrome

Footnotes

References

Dubin-Johnson syndrome at New York Times

Dubin-Johnson-Syndrome at ght.nlm.nig.gov

Dubin Johnson Syndrome at Medline Plus encylopedia

External links

• Dubin–Johnson syndrome at NIH's Office of Rare Diseases

UpToDate Contents

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• 1. 抱合型高​ビリルビン​血症関連​の​遺伝性疾患​ inherited disorders associated with conjugated hyperbilirubinemia
• 2. 黄疸​または​無症候性高​ビリルビン​血症成人患者​に​対​する​診断的​アプローチ​ diagnostic approach to the adult with jaundice or asymptomatic hyperbilirubinemia
• 3. 肝酵素​および​肝機能検査値​の​異常​が​認​められた​患者​に​対​する​アプローチ​ approach to the patient with abnormal liver biochemical and function tests
• 4. 小児​における​非抱合型高​ビリルビン​血症​による​黄疸​の​評価​ evaluation of jaundice caused by unconjugated hyperbilirubinemia in children
• 5. ビリルビン​代謝​ bilirubin metabolism

English Journal

• [A case of sustained cholestasis caused by acute a viral hepatitis in dubin-johnson syndrome].

• Ra SH, Sung SY, Jung HY, Cha JH, Baik SK, Cho MY, Kim MY.SourceDepartment of Internal Medicine, Yonsei University Wonju College of Medicine, 162 Ilsan-dong, Wonju 220-701, Korea.
• The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chi.Korean J Gastroenterol.2012 Apr 1;59(4):313-6.
• Dubin-Johnson syndrome is a rare clinical entity. It shows intermittent symptoms such as chronic or intermittent jaundice, abdominal pain, weakness, nausea, vomiting, anorexia and diarrhea. Symptoms are precipitated or aggravated by pregnancy, alcoholism, surgical procedures and intercurrent disease
• PMID 22544030

• Living donor liver transplantation using a graft from a donor with Dubin-Johnson syndrome.

• Liu C, Niu DM, Hsia CY, Loong CC, Lin NC, Tsai HL, Tsou MY, Chin T.SourceDivision of Pediatric Surgery, Taipei Veterans General Hospital, Taiwan. csliu@vghtpe.gov.tw
• Pediatric transplantation.Pediatr Transplant.2012 Feb;16(1):E25-9. doi: 10.1111/j.1399-3046.2010.01385.x. Epub 2010 Sep 1.
• DJS is an autosomal recessive disorder that causes an increase in conjugated bilirubin without elevation of liver enzymes. Most patients are asymptomatic and have normal life spans, but to the best of our knowledge, their livers have never been reported to be grafts in liver transplantation. Herein,
• PMID 20819184

Japanese Journal

• Dubin-Johnson 症候群患者に認めたABCC2遺伝子の部分欠損(exon 7 全域)例

• KANDA Daisuke,TAKAGI Hitoshi,KAWAHARA Yasutsugu,YATA Yutaka,TAKAKUSAGI Tomofumi,HATANAKA Takeshi,YOSHINAGA Teruo,IESAKI Keigo,KASHIWABARA Kenji,HIGUCHI Tsugio,MORI Masatomo,HIROTA Takeshi,HIGUCHI Shun,IEIRI Ichiro
• Drug metabolism and pharmacokinetics 24(5), 464-468, 2009-10-25
• NAID 10025724775

• Genetic background of Japanese patients with adult-onset storage diseases in the liver

• HAYASHI Hisao,WAKUSAWA Shinya,YANO Motoyoshi,OKADA Toshihide
• Hepatology research : the official journal of the Japan Society of Hepatology 37(10), 777-783, 2007-10-01
• NAID 10019950054

• Dubin-Johnson 症候群に合併した肝細胞癌の1例

• 大澤 岳史,塩澤 俊一,土屋 玲,金 達浩,成高 義彦,小川 健治
• 日本臨床外科学会雑誌 = The journal of the Japan Surgical Association 68(8), 2061-2066, 2007-08-25
• NAID 10019821581

Related Links

• 肝性黄疸,肝細胞性黄疸 hepatic jaundice

肝臓でのビリルビンの取り込み障害によって、血中に非抱合型ビリルビンが増加する。 Crigler-Najjar syndrome. グルクロン酸転移酵素の先天的な欠損によりビリルビンの 抱合が行われず、非抱合型ビリルビンが血中に増加す る。 Dubin-Johnson syndrome ...

• Dubin-Johnson Syndrome - eMedicine - Medscape

4 Jan 2012 ... Dubin-Johnson syndrome (DJS) is a type of hereditary hyperbilirubinemia that was first described independently in 1954 by Dubin and Johnson and by Sprinz and Nelson. Hereditary hyperbilirubinemias can be divided into ...

Related Pictures

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★リンクテーブル★

リンク元	「デュビン・ジョンソン症候群」「chronic idiopathic jaundice」
関連記事	「syndrome」

「デュビン・ジョンソン症候群」

　　[★]

英

Dubin-Johnson syndrome, DJS

同

Dubin-Johnson症候群、デュービン・ジョンソン症候群

デュビン・スプリンツ症候群 Dubin-Sprinz syndrome

検査

• (腹腔鏡などによる)肉眼所見：黒色肝
• ブロムスルファレイン試験 BSP試験：45分前まではブロムスルファレインの血中濃度は低下傾向にあるが、45分以降血中濃度が再上昇していく。グルクロン酸抱合を受けたBSPであるとされる。　→　肝細胞にtrapされて抱合を受けるが、排泄できないのでleakしてきたのであろうか？？

体質性黄疸 (IMD.875)

体質性黄疸	遺伝形式*	ビリルビン型	ビリルビン値	予後
Crigler-Najjar症候群I型	常染色体劣性	間接型(非抱合)	21-31mg/dl	致死的
Crigler-Najjar症候群II型	常染色体劣性		8-18mg/dl	良好
Gilbert症候群	常染色体優性		<6mg/dl	きわめて良好
Dubin-Johnson症候群	常染色体劣性	直接型(抱合)	2-5(-25)mg/dl	きわめて良好
Rotor症候群	常染色体劣性		2-5(-20)mg/dl	きわめて良好
*劣性か優性かについては例外あり

参考

• 1. [charged] Inherited disorders associated with conjugated hyperbilirubinemia - uptodate [1]

「chronic idiopathic jaundice」

　　[★]

慢性特発性黄疸

関

Dubin-Johnson syndrome

「syndrome」

　　[★]

• n.

• 症候群