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Diabetes mellitus type 1(IDDM; IDDM1)

MedGen UID:
41522
Concept ID:
C0011854
Disease or Syndrome
Synonyms: Diabetes mellitus, insulin-dependent; DIABETES MELLITUS, INSULIN-DEPENDENT, 1; DIABETES MELLITUS, TYPE I; IDDM; IDDM1; INSULIN-DEPENDENT DIABETES MELLITUS 1; JUVENILE-ONSET DIABETES
Modes of inheritance:
Heterogeneous
MedGen UID:
5539
Concept ID:
C0019409
Qualitative Concept
Made up of elements or ingredients that are not alike.
SNOMED CT: Type 1 diabetes mellitus (46635009); Diabetes mellitus type 1 (46635009); Type I diabetes mellitus (46635009); Diabetes mellitus type I (46635009)
 
Genes: FOXP3; PTPN22; HNF1A; OAS1; ITPR3
Cytogenetic locations: 12q24.13; 12q24.31; 1p13.2; Xp11.23
OMIM®: 222100

Definition

The type of diabetes mellitus called IDDM is a disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of IDDM have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype. The classical phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. [from OMIM]

Additional description

From GHR
Type 1 diabetes is a disorder characterized by abnormally high blood sugar levels. In this form of diabetes, specialized cells in the pancreas called beta cells stop producing insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. Lack of insulin results in the inability to use glucose for energy or to control the amount of sugar in the blood. Type 1 diabetes can occur at any age; however, it usually develops by early adulthood, most often starting in adolescence. The first signs and symptoms of the disorder are caused by high blood sugar and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, tingling or loss of feeling in the hands and feet, and weight loss. These symptoms may recur during the course of the disorder if blood sugar is not well controlled by insulin replacement therapy. Improper control can also cause blood sugar levels to become too low (hypoglycemia). This may occur when the body's needs change, such as during exercise or if eating is delayed. Hypoglycemia can cause headache, dizziness, hunger, shaking, sweating, weakness, and agitation. Uncontrolled type 1 diabetes can lead to a life-threatening complication called diabetic ketoacidosis. Without insulin, cells cannot take in glucose. A lack of glucose in cells prompts the liver to try to compensate by releasing more glucose into the blood, and blood sugar can become extremely high. The cells, unable to use the glucose in the blood for energy, respond by using fats instead. Breaking down fats to obtain energy produces waste products called ketones, which can build up to toxic levels in people with type 1 diabetes, resulting in diabetic ketoacidosis. Affected individuals may begin breathing rapidly; develop a fruity odor in the breath; and experience nausea, vomiting, facial flushing, stomach pain, and dryness of the mouth (xerostomia). In severe cases, diabetic ketoacidosis can lead to coma and death. Over many years, the chronic high blood sugar associated with diabetes may cause damage to blood vessels and nerves, leading to complications affecting many organs and tissues. The retina, which is the light-sensitive tissue at the back of the eye, can be damaged (diabetic retinopathy), leading to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) may also occur and can lead to kidney failure and end-stage renal disease (ESRD). Pain, tingling, and loss of normal sensation (diabetic neuropathy) often occur, especially in the feet. Impaired circulation and absence of the normal sensations that prompt reaction to injury can result in permanent damage to the feet; in severe cases, the damage can lead to amputation. People with type 1 diabetes are also at increased risk of heart attacks, strokes, and problems with urinary and sexual function.  http://ghr.nlm.nih.gov/condition/type-1-diabetes

Clinical features

Polyuria
MedGen UID:
488955
Concept ID:
C1167965
Finding
Polyphagia
MedGen UID:
534545
Concept ID:
C0232461
Finding
Polydipsia
MedGen UID:
505026
Concept ID:
CN001772
Finding
Excessive thirst manifested by excessive fluid intake.
Diabetes mellitus
MedGen UID:
504609
Concept ID:
CN000766
Finding
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Hyperglycemia
MedGen UID:
5689
Concept ID:
C0020456
Disease or Syndrome
Hyperglycemia means high blood sugar or glucose. Glucose comes from the foods you eat. Insulin is a hormone that moves glucose into your cells to give them energy. Hyperglycemia happens when your body doesn't make enough insulin or can't use it the right way. People with diabetes can get hyperglycemia from not eating the right foods or not taking medicines correctly. Other problems that can raise blood sugar include infections, certain medicines, hormone imbalances, or severe illnesses.
Diabetes mellitus
MedGen UID:
504609
Concept ID:
CN000766
Finding
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Ketoacidosis
MedGen UID:
505043
Concept ID:
CN001804
Finding
Acidosis resulting from accumulation of ketone bodies.
Abnormality of the immune system
MedGen UID:
427926
Concept ID:
CN002465
Finding
An abnormality of the immune system.

Recent clinical studies

Etiology

Adamczak DM, Nowak JK, Frydrychowicz M, Kaczmarek M, Sikora J
Scand J Immunol 2014 Aug;80(2):75-84. doi: 10.1111/sji.12188. PMID: 24845558
Nobis S, Lehr D, Ebert DD, Berking M, Heber E, Baumeister H, Becker A, Snoek F, Riper H
BMC Psychiatry 2013 Nov 15;13:306. doi: 10.1186/1471-244X-13-306. [Epub ahead of print] PMID: 24238346Free PMC Article
Hilmi A, Pasternak Y, Friger M, Loewenthal N, Haim A, Hershkovitz E
Isr Med Assoc J 2013 Jun;15(6):267-70. PMID: 23882887
Dizdarevic-Bostandic A, Burekovic A, Velija-Asimi Z, Godinjak A
Med Arch 2013;67(3):160-1. PMID: 23848031
Matanovic D, Popovic S, Parapid B, Petronic I, Cirovic D, Nikolic D
Arch Ital Biol 2012 Dec;150(4):251-8. PMID: 23479458

Diagnosis

Nobis S, Lehr D, Ebert DD, Berking M, Heber E, Baumeister H, Becker A, Snoek F, Riper H
BMC Psychiatry 2013 Nov 15;13:306. doi: 10.1186/1471-244X-13-306. [Epub ahead of print] PMID: 24238346Free PMC Article
Hilmi A, Pasternak Y, Friger M, Loewenthal N, Haim A, Hershkovitz E
Isr Med Assoc J 2013 Jun;15(6):267-70. PMID: 23882887
Dizdarevic-Bostandic A, Burekovic A, Velija-Asimi Z, Godinjak A
Med Arch 2013;67(3):160-1. PMID: 23848031
van Schinkel LD, Auger D, van Elderen SG, Ajmone Marsan N, Delgado V, Lamb HJ, Ng AC, Smit JW, Bax JJ, Westenberg JJ, de Roos A
Int J Cardiovasc Imaging 2013 Mar;29(3):633-41. Epub 2012 Sep 22 doi: 10.1007/s10554-012-0125-2. [Epub ahead of print] PMID: 23001157
Matanovic D, Popovic S, Parapid B, Petronic I, Cirovic D, Nikolic D
Arch Ital Biol 2012 Dec;150(4):251-8. PMID: 23479458

Therapy

Nobis S, Lehr D, Ebert DD, Berking M, Heber E, Baumeister H, Becker A, Snoek F, Riper H
BMC Psychiatry 2013 Nov 15;13:306. doi: 10.1186/1471-244X-13-306. [Epub ahead of print] PMID: 24238346Free PMC Article
Hilmi A, Pasternak Y, Friger M, Loewenthal N, Haim A, Hershkovitz E
Isr Med Assoc J 2013 Jun;15(6):267-70. PMID: 23882887
Visser J, Snel M, Van Vliet HA
Cochrane Database Syst Rev 2013 Mar 28;3:CD003990. doi: 10.1002/14651858.CD003990.pub4. PMID: 23543528
Matanovic D, Popovic S, Parapid B, Petronic I, Cirovic D, Nikolic D
Arch Ital Biol 2012 Dec;150(4):251-8. PMID: 23479458
Rostami P, Sotoudeh A, Nakhaeimoghadam M, Rabbani A, Rezaei N
Turk J Pediatr 2012 May-Jun;54(3):309-11. PMID: 23094546

Prognosis

Dizdarevic-Bostandic A, Burekovic A, Velija-Asimi Z, Godinjak A
Med Arch 2013;67(3):160-1. PMID: 23848031
van Schinkel LD, Auger D, van Elderen SG, Ajmone Marsan N, Delgado V, Lamb HJ, Ng AC, Smit JW, Bax JJ, Westenberg JJ, de Roos A
Int J Cardiovasc Imaging 2013 Mar;29(3):633-41. Epub 2012 Sep 22 doi: 10.1007/s10554-012-0125-2. [Epub ahead of print] PMID: 23001157
Matanovic D, Popovic S, Parapid B, Petronic I, Cirovic D, Nikolic D
Arch Ital Biol 2012 Dec;150(4):251-8. PMID: 23479458
Gupta S
Med Clin North Am 2012 May;96(3):621-34, xi. Epub 2012 May 24 doi: 10.1016/j.mcna.2012.04.008. [Epub ahead of print] PMID: 22703858
Suláková T, Janda J, Cerná J, Janštová V, Feber J
J Hum Hypertens 2012 Jun;26(6):357-64. Epub 2011 May 5 doi: 10.1038/jhh.2011.38. [Epub ahead of print] PMID: 21544085

Clinical prediction guides

Nobis S, Lehr D, Ebert DD, Berking M, Heber E, Baumeister H, Becker A, Snoek F, Riper H
BMC Psychiatry 2013 Nov 15;13:306. doi: 10.1186/1471-244X-13-306. [Epub ahead of print] PMID: 24238346Free PMC Article
Visser J, Snel M, Van Vliet HA
Cochrane Database Syst Rev 2013 Mar 28;3:CD003990. doi: 10.1002/14651858.CD003990.pub4. PMID: 23543528
van Schinkel LD, Auger D, van Elderen SG, Ajmone Marsan N, Delgado V, Lamb HJ, Ng AC, Smit JW, Bax JJ, Westenberg JJ, de Roos A
Int J Cardiovasc Imaging 2013 Mar;29(3):633-41. Epub 2012 Sep 22 doi: 10.1007/s10554-012-0125-2. [Epub ahead of print] PMID: 23001157
Huntjens B, Charman WN, Workman H, Hosking SL, O'Donnell C
PLoS One 2012;7(12):e52947. Epub 2012 Dec 28 doi: 10.1371/journal.pone.0052947. PMID: 23285232Free PMC Article
Suláková T, Janda J, Cerná J, Janštová V, Feber J
J Hum Hypertens 2012 Jun;26(6):357-64. Epub 2011 May 5 doi: 10.1038/jhh.2011.38. [Epub ahead of print] PMID: 21544085

Recent systematic reviews

Paneni F
Diab Vasc Dis Res 2014 Jan;11(1):5-10. Epub 2013 Nov 19 doi: 10.1177/1479164113512859. [Epub ahead of print] PMID: 24254974
Kongkaew C, Jampachaisri K, Chaturongkul CA, Scholfield CN
Eur J Pediatr 2014 Feb;173(2):203-12. doi: 10.1007/s00431-013-2128-y. [Epub ahead of print] PMID: 23959326
Visser J, Snel M, Van Vliet HA
Cochrane Database Syst Rev 2013 Mar 28;3:CD003990. doi: 10.1002/14651858.CD003990.pub4. PMID: 23543528
Yu ZY, Chen LS, Zhang LC, Zhou TB
Nephrology (Carlton) 2012 Jul;17(5):480-7. doi: 10.1111/j.1440-1797.2012.01592.x. PMID: 22385293
Codner E, Soto N, Merino PM
Pediatr Diabetes 2012 Feb;13(1):108-23. Epub 2011 Oct 13 doi: 10.1111/j.1399-5448.2011.00825.x. [Epub ahead of print] PMID: 21995767

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