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Type 1 diabetes mellitus 2(IDDM2; T1D2)

MedGen UID:
377588
Concept ID:
C1852092
Disease or Syndrome
Synonym: Diabetes mellitus, insulin-dependent, 2
 
Gene (location): INS (11p15.5)
 
Monarch Initiative: MONDO:0007454
OMIM®: 125852

Definition

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.

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.

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]

Clinical features

From HPO
Diabetes mellitus type 1
MedGen UID:
41522
Concept ID:
C0011854
Disease or Syndrome
Type 1 diabetes mellitus (T1D), also designated insulin-dependent diabetes mellitus (IDDM), is a disorder of glucose homeostasis 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 T1D have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype. The classic 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.

Professional guidelines

PubMed

Mathew JE, Jacob JJ, Kalra S
J Pak Med Assoc 2021 Aug;71(8):2097-2099. PMID: 34418040
Narla NP, Smyrk TC, Pardi DS, Tung J
J Pediatr Gastroenterol Nutr 2013 Nov;57(5):557-61. doi: 10.1097/MPG.0b013e3182a1df59. PMID: 23820404
Patel P, Macerollo A
Am Fam Physician 2010 Apr 1;81(7):863-70. PMID: 20353144

Recent clinical studies

Etiology

McAllister DA, Read SH, Kerssens J, Livingstone S, McGurnaghan S, Jhund P, Petrie J, Sattar N, Fischbacher C, Kristensen SL, McMurray J, Colhoun HM, Wild SH
Circulation 2018 Dec 11;138(24):2774-2786. doi: 10.1161/CIRCULATIONAHA.118.034986. PMID: 29950404Free PMC Article
Liu J, Zhang HX, Feng GY, He L
Genet Mol Res 2013 Sep 23;12(3):3919-30. doi: 10.4238/2013.September.23.11. PMID: 24085454
Narla NP, Smyrk TC, Pardi DS, Tung J
J Pediatr Gastroenterol Nutr 2013 Nov;57(5):557-61. doi: 10.1097/MPG.0b013e3182a1df59. PMID: 23820404
Ch'ng CL, Jones MK, Kingham JG
Clin Med Res 2007 Oct;5(3):184-92. doi: 10.3121/cmr.2007.738. PMID: 18056028Free PMC Article
Goldacre MJ, Wotton CJ, Seagroatt V, Yeates D
Arch Dis Child 2004 Nov;89(11):1014-7. doi: 10.1136/adc.2003.046219. PMID: 15499053Free PMC Article

Diagnosis

McAllister DA, Read SH, Kerssens J, Livingstone S, McGurnaghan S, Jhund P, Petrie J, Sattar N, Fischbacher C, Kristensen SL, McMurray J, Colhoun HM, Wild SH
Circulation 2018 Dec 11;138(24):2774-2786. doi: 10.1161/CIRCULATIONAHA.118.034986. PMID: 29950404Free PMC Article
Narla NP, Smyrk TC, Pardi DS, Tung J
J Pediatr Gastroenterol Nutr 2013 Nov;57(5):557-61. doi: 10.1097/MPG.0b013e3182a1df59. PMID: 23820404
Joensen LE, Tapager I, Willaing I
Diabet Med 2013 Sep;30(9):1132-9. Epub 2013 Jun 12 doi: 10.1111/dme.12241. PMID: 23701311
Ch'ng CL, Jones MK, Kingham JG
Clin Med Res 2007 Oct;5(3):184-92. doi: 10.3121/cmr.2007.738. PMID: 18056028Free PMC Article

Therapy

McAllister DA, Read SH, Kerssens J, Livingstone S, McGurnaghan S, Jhund P, Petrie J, Sattar N, Fischbacher C, Kristensen SL, McMurray J, Colhoun HM, Wild SH
Circulation 2018 Dec 11;138(24):2774-2786. doi: 10.1161/CIRCULATIONAHA.118.034986. PMID: 29950404Free PMC Article
Narla NP, Smyrk TC, Pardi DS, Tung J
J Pediatr Gastroenterol Nutr 2013 Nov;57(5):557-61. doi: 10.1097/MPG.0b013e3182a1df59. PMID: 23820404

Prognosis

McAllister DA, Read SH, Kerssens J, Livingstone S, McGurnaghan S, Jhund P, Petrie J, Sattar N, Fischbacher C, Kristensen SL, McMurray J, Colhoun HM, Wild SH
Circulation 2018 Dec 11;138(24):2774-2786. doi: 10.1161/CIRCULATIONAHA.118.034986. PMID: 29950404Free PMC Article
Narla NP, Smyrk TC, Pardi DS, Tung J
J Pediatr Gastroenterol Nutr 2013 Nov;57(5):557-61. doi: 10.1097/MPG.0b013e3182a1df59. PMID: 23820404

Clinical prediction guides

Narla NP, Smyrk TC, Pardi DS, Tung J
J Pediatr Gastroenterol Nutr 2013 Nov;57(5):557-61. doi: 10.1097/MPG.0b013e3182a1df59. PMID: 23820404
Joensen LE, Tapager I, Willaing I
Diabet Med 2013 Sep;30(9):1132-9. Epub 2013 Jun 12 doi: 10.1111/dme.12241. PMID: 23701311

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