関: central diabetes insipidus、neurogenic diabetes insipidus、pituitary diabetes insipidus

WordNet

lacking interest or significance or impact; "an insipid personality"; "jejune novel" (同)jejune
a polygenic disease characterized by abnormally high glucose levels in the blood; any of several metabolic disorders marked by excessive urination and persistent thirst

PrepTutorEJDIC

(飲食物が)味のない,まずい / (人・話などが)味気ない,無味乾燥な
糖尿病(尿に糖が異常に出る病気)

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/01/10 04:14:55」(JST)

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Neurogenic diabetes insipidus, more commonly known as central diabetes insipidus, is due to a lack of vasopressin production in the brain. Vasopressin acts to increase the volume of blood (intravascularly), and decrease the volume of urine produced. Therefore, a lack of it causes increased urine production and volume depletion.

It is also known as "neurohypophyseal diabetes insipidus".^[1]^[2] This condition has only polyuria in common with diabetes and although not mutually exclusive, with most typical cases, the name diabetes insipidus is a misleading misnomer.^[3] A better name might be "ADH-deficient polyuria".

Causes

Idiopathic

In at least 25% of cases (the most commonly occurring classification), neurogenic diabetes insipidus is idiopathic, meaning that the lack of vasopressin production arose from an unknown cause.^[4] It is also due to damage of the hypothalamus, pituitary stalk, posterior pituitary, and can arise from head trauma.

Acquired

The lack of vasopressin production usually results from some sort of damage to the pituitary gland. It may be caused due to damage to the brain caused by:

Benign suprasellar tumors (20% of cases)^[4]
Infections (encephalitis, tuberculosis etc.)
Trauma (17% of cases)^[4] or neurosurgery (9% of cases)^[4]
Non-infectious granuloma (sarcoidosis, Hand-Schuller Christian disease etc.)
Leukaemia
Autoimmune - associated with thyroiditis
Other rare causes which include hemochromatosis and histiocytosis.

Vasopressin is released by the posterior pituitary, but unlike most other pituitary hormones, vasopressin is produced in the hypothalamus. Neurogenic diabetes insipidus can be a failure of production at the hypothalamus, or a failure of release at the pituitary.^[5]

Genetic

The most rare form of central DI is familial neurogenic diabetes insipidus. This form of DI is due to an inherited mutation of the arginine vasopressin-neurophysin II (AVP-NPII) gene, inherited in an autosomal dominant manner.^[6] At one point, only 45 families worldwide were known to possess this genetic trait.^[7] It is now more widely recognized, although the precise number of people affected with this form of DI is unknown at the present time.

There is also an X-linked familial form.

Wolfram Syndrome (also called DIDMOAD) is characterised by DI, diabetes mellitus nerve deafness and optic atrophy.

Treatment

The disorder is treated with vasopressin analogs such as Desmopressin.

References

^ Chitturi S, Harris M, Thomsett MJ, et al. (December 2008). "Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus". Clin. Endocrinol. (Oxf) 69 (6): 926–30. doi:10.1111/j.1365-2265.2008.03303.x. PMID 18494865.
^ Lee YW, Lee KW, Ryu JW, et al. (2008). "Mutation of Glu78 of the AVP-NPII gene impairs neurophysin as a carrier protein for arginine vasopressin in a family with neurohypophyseal diabetes insipidus". Ann. Clin. Lab. Sci. 38 (1): 12–4. PMID 18316776.
^ "The Pathogenesis of Diabetes Insipidus". Journal of the American Medical Association 49: 499. doi:10.1001/jama.1907.02530060049004.
^ ^a ^b ^c ^d "Diabetes Inspidus". Library of the National Medical Society. 2008. http://www.medical-library.org/journals4a/diabetes_insipidus.htm
^ "Central Diabetes Insipidus: Pituitary Gland Disorders: Merck Manual Home Health Handbook". Retrieved 2009-04-04.
^ "Diabetes Inspidus". The Doctor's Doctor. 2005. http://www.thedoctorsdoctor.com/diseases/diabetes_insipidus.htm
^ "Familial Neurogenic Diabetes Insipidus: a disease caused by a traffic jam?". The Diabetes Insipidus Foundation. 2006. http://diabetesinsipidus.org/4di_familial.htm

UpToDate Contents

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1. 中枢性尿崩症の臨床症状および原因 clinical manifestations and causes of central diabetes insipidus
2. 中枢性尿崩症の治療 treatment of central diabetes insipidus
3. 多尿および尿崩症の診断 diagnosis of polyuria and diabetes insipidus
4. 尿崩症における尿量 urine output in diabetes insipidus
5. 高ナトリウム血症の病因および評価 etiology and evaluation of hypernatremia

English Journal

A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus.

Ilhan M1, Tiryakioglu NO, Karaman O, Coskunpinar E, Yildiz RS, Turgut S, Tiryakioglu D, Toprak H, Tasan E.
Journal of endocrinological investigation.J Endocrinol Invest.2015 Jul 25. [Epub ahead of print]
PURPOSE: Familial neurohypophyseal diabetes insipidus (FNDI) is a rare, autosomal dominant, inherited disorder which is characterized by severe polydipsia and polyuria generally presenting in early childhood. In the present study, we aimed to analyze the AVP gene in a Turkish family with FNDI.METHOD
PMID 26208472

Identification of an AVP-NPII mutation within the AVP moiety in a family with neurohypophyseal diabetes insipidus: review of the literature.

Koufaris C1, Alexandrou A1, Sismani C1, Skordis N2.
Hormones (Athens, Greece).Hormones (Athens).2015 Jul;14(3):442-6. doi: 10.14310/horm.2002.1604.
Familial neurohypophyseal diabetes insipidus (FNDI) is a disorder characterized by excess excretion of diluted urine (polyuria) and increased uptake of fluids (polydipsia). The disorder is caused by mutations affecting the AVP-NPII gene, resulting in absent or deficient secretion of the antidiuretic
PMID 26233932

Management of diabetes insipidus and adipsia in the child.

Di Iorgi N1, Morana G2, Napoli F1, Allegri AE1, Rossi A2, Maghnie M3.
Best practice & research. Clinical endocrinology & metabolism.Best Pract Res Clin Endocrinol Metab.2015 Jun;29(3):415-36. doi: 10.1016/j.beem.2015.04.013. Epub 2015 May 9.
Central diabetes insipidus (CDI) is a complex and heterogeneous clinical syndrome affecting the hypothalamic-neurohypophyseal network and water balance. A recent national surveillance in Denmark showed a prevalence rate of twenty-three CDI patients per 100,000 inhabitants in five years. The differen
PMID 26051300

Japanese Journal

食道アカラシア手術後に著明な高ナトリウム血症を呈し顕在化した尿崩症の1例

木村敬太,丹野有道,小野杏子 [他],倉重眞大,鈴木孝秀,大城戸一郎,早川洋,横山啓太郎,山本裕康,細谷龍男
日本内科学会雑誌 100(6), 1648-1650, 2011-06-10
家族性中枢性尿崩症は，AVP（arginine vasopressin）遺伝子の変異により尿濃縮力障害を来すまれな疾患である．症例は52歳女性．食道アカラシア手術に伴う飲水制限を契機としてNa171mmol/lと著明な高ナトリウム血症を呈した．AVPの分泌反応が低下しており，バソプレシン負荷試験にて尿浸透圧の上昇が認められたことから中枢性尿崩症と診断された．さらに4世代にわたり家系内に多飲多尿の家 …
NAID 10029097648

Spontaneous Regression of Isolated Neurohypophyseal Langerhans Cell Histiocytosis with Diabetes Insipidus

NAGASAKI KEISUKE,TSUMANUMA ITARU,YONEOKA YUICHIRO,OGAWA YOHEI,KIKUCHI TORU,UCHIYAMA MAKOTO
Endocrine journal 56(5), 721-725, 2009-08-20
NAID 10026914724

Spontaneous Regression of Isolated Neurohypophyseal Langerhans Cell Histiocytosis with Diabetes Insipidus

NAGASAKI Keisuke,TSUMANUMA Itaru,YONEOKA Yuichiro,OGAWA Yohei,KIKUCHI Toru,UCHIYAMA Makoto
Endocrine Journal 56(5), 721-725, 2009
… In pediatric and adolescent patients, the most common causes for a thickened pituitary stalk with central diabetes insipidus are germ cell tumors, lymphocytic infundibuloneurohypophysitis (LIN), and Langerhans cell histiocytosis (LCH). …
NAID 130004718258

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リンク元	「pituitary diabetes insipidus」「神経下垂体性尿崩症」
関連記事	「insipid」「insipidus」「neurohypophyseal」「diabetes」