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Type 1 diabetes mellitus 22(T1D22)

MedGen UID:
390900
Concept ID:
C2675864
Disease or Syndrome
Synonyms: Diabetes mellitus, insulin-dependent, 22; T1D22
 
Gene (location): CCR5 (3p21.31)
 
Monarch Initiative: MONDO:0012921
OMIM®: 612522

Definition

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.

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.

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. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Yapanis M, James S, Craig ME, O'Neal D, Ekinci EI
J Clin Endocrinol Metab 2022 May 17;107(6):e2221-e2236. doi: 10.1210/clinem/dgac034. PMID: 35094087Free PMC Article
Castellanos L, Tuffaha M, Koren D, Levitsky LL
Paediatr Drugs 2020 Aug;22(4):357-367. doi: 10.1007/s40272-020-00397-0. PMID: 32449138
Reynolds AN, Akerman AP, Mann J
PLoS Med 2020 Mar;17(3):e1003053. Epub 2020 Mar 6 doi: 10.1371/journal.pmed.1003053. PMID: 32142510Free PMC Article

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
Monaghan M, Bryant BL, Inverso H, Moore HR, Streisand R
Curr Diab Rep 2022 Jun;22(6):247-256. Epub 2022 Apr 18 doi: 10.1007/s11892-022-01465-0. PMID: 35435615Free PMC Article
Yapanis M, James S, Craig ME, O'Neal D, Ekinci EI
J Clin Endocrinol Metab 2022 May 17;107(6):e2221-e2236. doi: 10.1210/clinem/dgac034. PMID: 35094087Free PMC Article
Ziegler R, Neu A
Dtsch Arztebl Int 2018 Mar 2;115(9):146-156. doi: 10.3238/arztebl.2018.0146. PMID: 29563012Free PMC Article
Polsky S, Ellis SL
Curr Opin Endocrinol Diabetes Obes 2015 Aug;22(4):277-82. doi: 10.1097/MED.0000000000000170. PMID: 26087341

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
Park J, Ntelis S, Yunasan E, Downton KD, Yip TC, Munir KM, Haq N
J Clin Endocrinol Metab 2023 Dec 21;109(1):279-292. doi: 10.1210/clinem/dgad471. PMID: 37561012
Ziegler AG, Kick K, Bonifacio E, Haupt F, Hippich M, Dunstheimer D, Lang M, Laub O, Warncke K, Lange K, Assfalg R, Jolink M, Winkler C, Achenbach P; Fr1da Study Group
JAMA 2020 Jan 28;323(4):339-351. doi: 10.1001/jama.2019.21565. PMID: 31990315Free PMC Article
Ziegler R, Neu A
Dtsch Arztebl Int 2018 Mar 2;115(9):146-156. doi: 10.3238/arztebl.2018.0146. PMID: 29563012Free PMC Article
Herold KC, Hagopian W, Auger JA, Poumian-Ruiz E, Taylor L, Donaldson D, Gitelman SE, Harlan DM, Xu D, Zivin RA, Bluestone JA
N Engl J Med 2002 May 30;346(22):1692-8. doi: 10.1056/NEJMoa012864. PMID: 12037148

Therapy

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
Pratley RE, Kanapka LG, Rickels MR, Ahmann A, Aleppo G, Beck R, Bhargava A, Bode BW, Carlson A, Chaytor NS, Fox DS, Goland R, Hirsch IB, Kruger D, Kudva YC, Levy C, McGill JB, Peters A, Philipson L, Philis-Tsimikas A, Pop-Busui R, Shah VN, Thompson M, Vendrame F, Verdejo A, Weinstock RS, Young L, Miller KM; Wireless Innovation for Seniors With Diabetes Mellitus (WISDM) Study Group
JAMA 2020 Jun 16;323(23):2397-2406. doi: 10.1001/jama.2020.6928. PMID: 32543682Free PMC Article
Ziegler R, Neu A
Dtsch Arztebl Int 2018 Mar 2;115(9):146-156. doi: 10.3238/arztebl.2018.0146. PMID: 29563012Free 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
Herold KC, Hagopian W, Auger JA, Poumian-Ruiz E, Taylor L, Donaldson D, Gitelman SE, Harlan DM, Xu D, Zivin RA, Bluestone JA
N Engl J Med 2002 May 30;346(22):1692-8. doi: 10.1056/NEJMoa012864. PMID: 12037148

Prognosis

Wagenknecht LE, Lawrence JM, Isom S, Jensen ET, Dabelea D, Liese AD, Dolan LM, Shah AS, Bellatorre A, Sauder K, Marcovina S, Reynolds K, Pihoker C, Imperatore G, Divers J; SEARCH for Diabetes in Youth study
Lancet Diabetes Endocrinol 2023 Apr;11(4):242-250. Epub 2023 Feb 28 doi: 10.1016/S2213-8587(23)00025-6. PMID: 36868256Free PMC Article
Sgrazzutti L, Sansone F, Attanasi M, Di Pillo S, Chiarelli F
Int J Mol Sci 2021 May 28;22(11) doi: 10.3390/ijms22115757. PMID: 34071190Free PMC Article
Lin X, Xu Y, Pan X, Xu J, Ding Y, Sun X, Song X, Ren Y, Shan PF
Sci Rep 2020 Sep 8;10(1):14790. doi: 10.1038/s41598-020-71908-9. PMID: 32901098Free PMC Article
Ziegler AG, Kick K, Bonifacio E, Haupt F, Hippich M, Dunstheimer D, Lang M, Laub O, Warncke K, Lange K, Assfalg R, Jolink M, Winkler C, Achenbach P; Fr1da Study Group
JAMA 2020 Jan 28;323(4):339-351. doi: 10.1001/jama.2019.21565. PMID: 31990315Free PMC Article
Zaharia OP, Strassburger K, Strom A, Bönhof GJ, Karusheva Y, Antoniou S, Bódis K, Markgraf DF, Burkart V, Müssig K, Hwang JH, Asplund O, Groop L, Ahlqvist E, Seissler J, Nawroth P, Kopf S, Schmid SM, Stumvoll M, Pfeiffer AFH, Kabisch S, Tselmin S, Häring HU, Ziegler D, Kuss O, Szendroedi J, Roden M; German Diabetes Study Group
Lancet Diabetes Endocrinol 2019 Sep;7(9):684-694. Epub 2019 Jul 22 doi: 10.1016/S2213-8587(19)30187-1. PMID: 31345776

Clinical prediction guides

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
Park J, Ntelis S, Yunasan E, Downton KD, Yip TC, Munir KM, Haq N
J Clin Endocrinol Metab 2023 Dec 21;109(1):279-292. doi: 10.1210/clinem/dgad471. PMID: 37561012
Vora KA, Munns CF, Donaghue KC, Craig ME, Briody J, Benitez-Aguirre P
Pediatr Diabetes 2022 Sep;23(6):773-782. Epub 2022 Jun 6 doi: 10.1111/pedi.13367. PMID: 35603554Free PMC Article
Ziegler AG, Kick K, Bonifacio E, Haupt F, Hippich M, Dunstheimer D, Lang M, Laub O, Warncke K, Lange K, Assfalg R, Jolink M, Winkler C, Achenbach P; Fr1da Study Group
JAMA 2020 Jan 28;323(4):339-351. doi: 10.1001/jama.2019.21565. PMID: 31990315Free 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

Yu J, Sharma P, Girgis CM, Gunton JE
Int J Mol Sci 2022 Nov 20;23(22) doi: 10.3390/ijms232214434. PMID: 36430915Free PMC Article
Teo E, Hassan N, Tam W, Koh S
Diabetologia 2022 Apr;65(4):604-619. Epub 2022 Feb 9 doi: 10.1007/s00125-021-05648-4. PMID: 35141761
Eberle C, Stichling S
J Med Internet Res 2021 Feb 19;23(2):e23244. doi: 10.2196/23244. PMID: 33605889Free PMC Article
Nourelden AZ, Elshanbary AA, El-Sherif L, Benmelouka AY, Rohim HI, Helmy SK, Sayed MK, Ismail A, Ali AS, Ragab KM, Zaazouee MS
Endocr Metab Immune Disord Drug Targets 2021;21(10):1895-1904. doi: 10.2174/1871530320999201209222921. PMID: 33302842
Reynolds AN, Akerman AP, Mann J
PLoS Med 2020 Mar;17(3):e1003053. Epub 2020 Mar 6 doi: 10.1371/journal.pmed.1003053. PMID: 32142510Free PMC Article

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