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Type 1 diabetes mellitus 10(T1D10)

MedGen UID:
400903
Concept ID:
C1866040
Disease or Syndrome
Synonyms: Diabetes mellitus, insulin-dependent, 10; T1D10
 
Gene (location): IL2RA (10p15.1)
 
Monarch Initiative: MONDO:0011168
OMIM®: 601942

Definition

Type 1 diabetes is a disorder characterized by abnormally high levels of blood glucose, also called blood sugar. 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 glucose in the blood.

Type 1 diabetes can occur at any age, from early childhood to late adulthood. The first signs and symptoms of the disorder are caused by high blood glucose 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 glucose is not well controlled by insulin replacement therapy. Improper control can also cause blood glucose 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.

Over many years, the chronic high blood glucose 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.

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 glucose 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. [from MedlinePlus Genetics]

Clinical features

From HPO
Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.

Professional guidelines

PubMed

Battelino T, Alexander CM, Amiel SA, Arreaza-Rubin G, Beck RW, Bergenstal RM, Buckingham BA, Carroll J, Ceriello A, Chow E, Choudhary P, Close K, Danne T, Dutta S, Gabbay R, Garg S, Heverly J, Hirsch IB, Kader T, Kenney J, Kovatchev B, Laffel L, Maahs D, Mathieu C, Mauricio D, Nimri R, Nishimura R, Scharf M, Del Prato S, Renard E, Rosenstock J, Saboo B, Ueki K, Umpierrez GE, Weinzimer SA, Phillip M
Lancet Diabetes Endocrinol 2023 Jan;11(1):42-57. Epub 2022 Dec 6 doi: 10.1016/S2213-8587(22)00319-9. PMID: 36493795
Tonneijck L, Muskiet MH, Smits MM, van Bommel EJ, Heerspink HJ, van Raalte DH, Joles JA
J Am Soc Nephrol 2017 Apr;28(4):1023-1039. Epub 2017 Jan 31 doi: 10.1681/ASN.2016060666. PMID: 28143897Free PMC Article
Gross JL, de Azevedo MJ, Silveiro SP, Canani LH, Caramori ML, Zelmanovitz T
Diabetes Care 2005 Jan;28(1):164-76. doi: 10.2337/diacare.28.1.164. PMID: 15616252

Recent clinical studies

Etiology

Liu Z, Wang H, Yang Z, Lu Y, Zou C
Cardiovasc Diabetol 2023 Sep 2;22(1):236. doi: 10.1186/s12933-023-01974-6. PMID: 37659996Free PMC Article
Misra S, Shukla AK
Eur J Clin Pharmacol 2023 May;79(5):609-616. Epub 2023 Apr 1 doi: 10.1007/s00228-023-03474-8. PMID: 37004543
Redondo MJ, Gignoux CR, Dabelea D, Hagopian WA, Onengut-Gumuscu S, Oram RA, Rich SS
Lancet Diabetes Endocrinol 2022 Aug;10(8):597-608. Epub 2022 Jun 17 doi: 10.1016/S2213-8587(22)00159-0. PMID: 35724677Free PMC Article
Shapiro AM, Pokrywczynska M, Ricordi C
Nat Rev Endocrinol 2017 May;13(5):268-277. Epub 2016 Nov 11 doi: 10.1038/nrendo.2016.178. PMID: 27834384
Holt RI
Diabet Med 2016 Oct;33(10):1311. doi: 10.1111/dme.13204. PMID: 27634433

Diagnosis

Liu Z, Wang H, Yang Z, Lu Y, Zou C
Cardiovasc Diabetol 2023 Sep 2;22(1):236. doi: 10.1186/s12933-023-01974-6. PMID: 37659996Free PMC Article
Redondo MJ, Gignoux CR, Dabelea D, Hagopian WA, Onengut-Gumuscu S, Oram RA, Rich SS
Lancet Diabetes Endocrinol 2022 Aug;10(8):597-608. Epub 2022 Jun 17 doi: 10.1016/S2213-8587(22)00159-0. PMID: 35724677Free PMC Article
Neu A, Bürger-Büsing J, Danne T, Dost A, Holder M, Holl RW, Holterhus PM, Kapellen T, Karges B, Kordonouri O, Lange K, Müller S, Raile K, Schweizer R, Sengbusch SV, Stachow R, Wagner V, Wiegand S, Ziegler R
Exp Clin Endocrinol Diabetes 2019 Dec;127(S 01):S39-S72. Epub 2019 Dec 20 doi: 10.1055/a-1018-8963. PMID: 31860926
Tonneijck L, Muskiet MH, Smits MM, van Bommel EJ, Heerspink HJ, van Raalte DH, Joles JA
J Am Soc Nephrol 2017 Apr;28(4):1023-1039. Epub 2017 Jan 31 doi: 10.1681/ASN.2016060666. PMID: 28143897Free PMC Article
Shapiro AM, Pokrywczynska M, Ricordi C
Nat Rev Endocrinol 2017 May;13(5):268-277. Epub 2016 Nov 11 doi: 10.1038/nrendo.2016.178. PMID: 27834384

Therapy

Misra S, Shukla AK
Eur J Clin Pharmacol 2023 May;79(5):609-616. Epub 2023 Apr 1 doi: 10.1007/s00228-023-03474-8. PMID: 37004543
Battelino T, Alexander CM, Amiel SA, Arreaza-Rubin G, Beck RW, Bergenstal RM, Buckingham BA, Carroll J, Ceriello A, Chow E, Choudhary P, Close K, Danne T, Dutta S, Gabbay R, Garg S, Heverly J, Hirsch IB, Kader T, Kenney J, Kovatchev B, Laffel L, Maahs D, Mathieu C, Mauricio D, Nimri R, Nishimura R, Scharf M, Del Prato S, Renard E, Rosenstock J, Saboo B, Ueki K, Umpierrez GE, Weinzimer SA, Phillip M
Lancet Diabetes Endocrinol 2023 Jan;11(1):42-57. Epub 2022 Dec 6 doi: 10.1016/S2213-8587(22)00319-9. PMID: 36493795
Lohner S, Kuellenberg de Gaudry D, Toews I, Ferenci T, Meerpohl JJ
Cochrane Database Syst Rev 2020 May 25;5(5):CD012885. doi: 10.1002/14651858.CD012885.pub2. PMID: 32449201Free PMC Article
Shapiro AM, Pokrywczynska M, Ricordi C
Nat Rev Endocrinol 2017 May;13(5):268-277. Epub 2016 Nov 11 doi: 10.1038/nrendo.2016.178. PMID: 27834384
Diabetes Care 1987 Jan-Feb;10(1):1-19. doi: 10.2337/diacare.10.1.1. PMID: 2882967

Prognosis

Gregory GA, Robinson TIG, Linklater SE, Wang F, Colagiuri S, de Beaufort C, Donaghue KC; International Diabetes Federation Diabetes Atlas Type 1 Diabetes in Adults Special Interest Group, Magliano DJ, Maniam J, Orchard TJ, Rai P, Ogle GD
Lancet Diabetes Endocrinol 2022 Oct;10(10):741-760. Epub 2022 Sep 13 doi: 10.1016/S2213-8587(22)00218-2. PMID: 36113507
Vanderniet JA, Jenkins AJ, Donaghue KC
Curr Cardiol Rep 2022 Oct;24(10):1455-1465. Epub 2022 Aug 17 doi: 10.1007/s11886-022-01762-w. PMID: 35976602
Lambrinoudaki I, Paschou SA, Armeni E, Goulis DG
Nat Rev Endocrinol 2022 Oct;18(10):608-622. Epub 2022 Jul 7 doi: 10.1038/s41574-022-00708-0. PMID: 35798847
Weng J, Zhou Z, Guo L, Zhu D, Ji L, Luo X, Mu Y, Jia W; T1D China Study Group
BMJ 2018 Jan 3;360:j5295. doi: 10.1136/bmj.j5295. PMID: 29298776Free PMC Article
Rawshani A, Rawshani A, Franzén S, Eliasson B, Svensson AM, Miftaraj M, McGuire DK, Sattar N, Rosengren A, Gudbjörnsdottir S
N Engl J Med 2017 Apr 13;376(15):1407-1418. doi: 10.1056/NEJMoa1608664. PMID: 28402770

Clinical prediction guides

Pesantez M, Ebekozien O, Vendrame F
Endocrinol Metab Clin North Am 2024 Mar;53(1):151-163. Epub 2023 Oct 3 doi: 10.1016/j.ecl.2023.07.003. PMID: 38272593
Liu Z, Wang H, Yang Z, Lu Y, Zou C
Cardiovasc Diabetol 2023 Sep 2;22(1):236. doi: 10.1186/s12933-023-01974-6. PMID: 37659996Free PMC Article
Redondo MJ, Gignoux CR, Dabelea D, Hagopian WA, Onengut-Gumuscu S, Oram RA, Rich SS
Lancet Diabetes Endocrinol 2022 Aug;10(8):597-608. Epub 2022 Jun 17 doi: 10.1016/S2213-8587(22)00159-0. PMID: 35724677Free PMC Article
Jacobsen LM, Newby BN, Perry DJ, Posgai AL, Haller MJ, Brusko TM
Curr Diab Rep 2018 Aug 30;18(10):90. doi: 10.1007/s11892-018-1066-5. PMID: 30168021Free PMC Article
Feig DS, Donovan LE, Corcoy R, Murphy KE, Amiel SA, Hunt KF, Asztalos E, Barrett JFR, Sanchez JJ, de Leiva A, Hod M, Jovanovic L, Keely E, McManus R, Hutton EK, Meek CL, Stewart ZA, Wysocki T, O'Brien R, Ruedy K, Kollman C, Tomlinson G, Murphy HR; CONCEPTT Collaborative Group
Lancet 2017 Nov 25;390(10110):2347-2359. Epub 2017 Sep 15 doi: 10.1016/S0140-6736(17)32400-5. PMID: 28923465Free PMC Article

Recent systematic reviews

Eberle C, Stichling S
J Med Internet Res 2021 Feb 19;23(2):e23244. doi: 10.2196/23244. PMID: 33605889Free PMC Article
Winkley K, Upsher R, Stahl D, Pollard D, Kasera A, Brennan A, Heller S, Ismail K
Health Technol Assess 2020 Jun;24(28):1-232. doi: 10.3310/hta24280. PMID: 32568666Free PMC Article
Kelkar A, Kelkar J, Mehta H, Amoaku W
Indian J Ophthalmol 2018 Oct;66(10):1401-1410. doi: 10.4103/ijo.IJO_1158_17. PMID: 30249823Free PMC Article
Quirk H, Blake H, Tennyson R, Randell TL, Glazebrook C
Diabet Med 2014 Oct;31(10):1163-73. doi: 10.1111/dme.12531. PMID: 24965376Free PMC Article
Roy T, Lloyd CE
J Affect Disord 2012 Oct;142 Suppl:S8-21. doi: 10.1016/S0165-0327(12)70004-6. PMID: 23062861

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