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Rare insulin-resistance syndrome

MedGen UID:
811410
•Concept ID:
C3714619
•
Disease or Syndrome
Synonym: Insulin Resistance Syndrome
 
Orphanet: ORPHA181368

Definition

A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome. [from NCI]

Professional guidelines

PubMed

The 2023 ACR/EULAR Antiphospholipid Syndrome Classification Criteria.
Barbhaiya M, Zuily S, Naden R, Hendry A, Manneville F, Amigo MC, Amoura Z, Andrade D, Andreoli L, Artim-Esen B, Atsumi T, Avcin T, Belmont HM, Bertolaccini ML, Branch DW, Carvalheiras G, Casini A, Cervera R, Cohen H, Costedoat-Chalumeau N, Crowther M, de Jesus G, Delluc A, Desai S, De Sancho M, Devreese KM, Diz-Kucukkaya R, Duarte-Garcia A, Frances C, Garcia D, Gris JC, Jordan N, Leaf RK, Kello N, Knight JS, Laskin C, Lee AI, Legault K, Levine SR, Levy RA, Limper M, Lockshin MD, Mayer-Pickel K, Musial J, Meroni PL, Orsolini G, Ortel TL, Pengo V, Petri M, Pons-Estel G, Gomez-Puerta JA, Raimboug Q, Roubey R, Sanna G, Seshan SV, Sciascia S, Tektonidou MG, Tincani A, Wahl D, Willis R, Yelnik C, Zuily C, Guillemin F, Costenbader K, Erkan D; ACR/EULAR APS Classification Criteria Collaborators
Arthritis Rheumatol 2023 Oct;75(10):1687-1702. Epub 2023 Aug 28 doi: 10.1002/art.42624. PMID: 37635643
IPNA clinical practice recommendations for the diagnosis and management of children with steroid-sensitive nephrotic syndrome.
Trautmann A, Boyer O, Hodson E, Bagga A, Gipson DS, Samuel S, Wetzels J, Alhasan K, Banerjee S, Bhimma R, Bonilla-Felix M, Cano F, Christian M, Hahn D, Kang HG, Nakanishi K, Safouh H, Trachtman H, Xu H, Cook W, Vivarelli M, Haffner D; International Pediatric Nephrology Association
Pediatr Nephrol 2023 Mar;38(3):877-919. Epub 2022 Oct 21 doi: 10.1007/s00467-022-05739-3. PMID: 36269406Free PMC Article
Epilepsy and cannabidiol: a guide to treatment.
Arzimanoglou A, Brandl U, Cross JH, Gil-Nagel A, Lagae L, Landmark CJ, Specchio N, Nabbout R, Thiele EA, Gubbay O, The Cannabinoids International Experts Panel; Collaborators
Epileptic Disord 2020 Feb 1;22(1):1-14. doi: 10.1684/epd.2020.1141. PMID: 32096470

Recent clinical studies

Etiology

Hypertriglyceridemia.
Chait A
Endocrinol Metab Clin North Am 2022 Sep;51(3):539-555. Epub 2022 Jul 4 doi: 10.1016/j.ecl.2022.02.010. PMID: 35963627
Addressing dyslipidemic risk beyond LDL-cholesterol.
Tall AR, Thomas DG, Gonzalez-Cabodevilla AG, Goldberg IJ
J Clin Invest 2022 Jan 4;132(1) doi: 10.1172/JCI148559. PMID: 34981790Free PMC Article
Rare causes of hypoglycemia in adults.
Douillard C, Jannin A, Vantyghem MC
Ann Endocrinol (Paris) 2020 Jun;81(2-3):110-117. Epub 2020 Apr 10 doi: 10.1016/j.ando.2020.04.003. PMID: 32409005
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I
Nat Rev Endocrinol 2017 Feb;13(2):105-124. Epub 2016 Sep 2 doi: 10.1038/nrendo.2016.138. PMID: 27585961
Genetics of Insulin Resistance and the Metabolic Syndrome.
Brown AE, Walker M
Curr Cardiol Rep 2016 Aug;18(8):75. doi: 10.1007/s11886-016-0755-4. PMID: 27312935Free PMC Article

Diagnosis

Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification.
Dapas M, Dunaif A
Endocr Rev 2022 Nov 25;43(6):927-965. doi: 10.1210/endrev/bnac001. PMID: 35026001Free PMC Article
Rare causes of hypoglycemia in adults.
Douillard C, Jannin A, Vantyghem MC
Ann Endocrinol (Paris) 2020 Jun;81(2-3):110-117. Epub 2020 Apr 10 doi: 10.1016/j.ando.2020.04.003. PMID: 32409005
Psychiatric disorders in women with polycystic ovary syndrome.
Rodriguez-Paris D, Remlinger-Molenda A, Kurzawa R, Głowińska A, Spaczyński R, Rybakowski F, Pawełczyk L, Banaszewska B
Psychiatr Pol 2019 Aug 31;53(4):955-966. doi: 10.12740/PP/OnlineFirst/93105. PMID: 31760419
Diagnosis and treatment of lipodystrophy: a step-by-step approach.
Araújo-Vilar D, Santini F
J Endocrinol Invest 2019 Jan;42(1):61-73. Epub 2018 Apr 27 doi: 10.1007/s40618-018-0887-z. PMID: 29704234Free PMC Article
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I
Nat Rev Endocrinol 2017 Feb;13(2):105-124. Epub 2016 Sep 2 doi: 10.1038/nrendo.2016.138. PMID: 27585961

Therapy

Hypertriglyceridemia.
Chait A
Endocrinol Metab Clin North Am 2022 Sep;51(3):539-555. Epub 2022 Jul 4 doi: 10.1016/j.ecl.2022.02.010. PMID: 35963627
The Diagnosis and Treatment of Hypertriglyceridemia.
Parhofer KG, Laufs U
Dtsch Arztebl Int 2019 Dec 6;116(49):825-832. doi: 10.3238/arztebl.2019.0825. PMID: 31888796Free PMC Article
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I
Nat Rev Endocrinol 2017 Feb;13(2):105-124. Epub 2016 Sep 2 doi: 10.1038/nrendo.2016.138. PMID: 27585961
Piperine and Its Role in Chronic Diseases.
Derosa G, Maffioli P, Sahebkar A
Adv Exp Med Biol 2016;928:173-184. doi: 10.1007/978-3-319-41334-1_8. PMID: 27671817
Insulin pharmacokinetics.
Binder C, Lauritzen T, Faber O, Pramming S
Diabetes Care 1984 Mar-Apr;7(2):188-99. doi: 10.2337/diacare.7.2.188. PMID: 6376015

Prognosis

Triglyceride-glucose index and coronary artery disease: a systematic review and meta-analysis of risk, severity, and prognosis.
Liang S, Wang C, Zhang J, Liu Z, Bai Y, Chen Z, Huang H, He Y
Cardiovasc Diabetol 2023 Jul 6;22(1):170. doi: 10.1186/s12933-023-01906-4. PMID: 37415168Free PMC Article
Critical care hepatology: definitions, incidence, prognosis and role of liver failure in critically ill patients.
Perez Ruiz de Garibay A, Kortgen A, Leonhardt J, Zipprich A, Bauer M
Crit Care 2022 Sep 26;26(1):289. doi: 10.1186/s13054-022-04163-1. PMID: 36163253Free PMC Article
Causes, consequences, and treatment of metabolically unhealthy fat distribution.
Stefan N
Lancet Diabetes Endocrinol 2020 Jul;8(7):616-627. doi: 10.1016/S2213-8587(20)30110-8. PMID: 32559477
Rhabdomyolysis: an evaluation of 475 hospitalized patients.
Melli G, Chaudhry V, Cornblath DR
Medicine (Baltimore) 2005 Nov;84(6):377-385. doi: 10.1097/01.md.0000188565.48918.41. PMID: 16267412
Insulin pharmacokinetics.
Binder C, Lauritzen T, Faber O, Pramming S
Diabetes Care 1984 Mar-Apr;7(2):188-99. doi: 10.2337/diacare.7.2.188. PMID: 6376015

Clinical prediction guides

Childhood-onset Craniopharyngioma.
Otte A, Müller HL
J Clin Endocrinol Metab 2021 Sep 27;106(10):e3820-e3836. doi: 10.1210/clinem/dgab397. PMID: 34086900
Nicotinamide N-methyltransferase: At the crossroads between cellular metabolism and epigenetic regulation.
Roberti A, Fernández AF, Fraga MF
Mol Metab 2021 Mar;45:101165. Epub 2021 Jan 14 doi: 10.1016/j.molmet.2021.101165. PMID: 33453420Free PMC Article
Causes, consequences, and treatment of metabolically unhealthy fat distribution.
Stefan N
Lancet Diabetes Endocrinol 2020 Jul;8(7):616-627. doi: 10.1016/S2213-8587(20)30110-8. PMID: 32559477
Psychiatric disorders in women with polycystic ovary syndrome.
Rodriguez-Paris D, Remlinger-Molenda A, Kurzawa R, Głowińska A, Spaczyński R, Rybakowski F, Pawełczyk L, Banaszewska B
Psychiatr Pol 2019 Aug 31;53(4):955-966. doi: 10.12740/PP/OnlineFirst/93105. PMID: 31760419
Genetics of Insulin Resistance and the Metabolic Syndrome.
Brown AE, Walker M
Curr Cardiol Rep 2016 Aug;18(8):75. doi: 10.1007/s11886-016-0755-4. PMID: 27312935Free PMC Article

Recent systematic reviews

Triglyceride-glucose index and coronary artery disease: a systematic review and meta-analysis of risk, severity, and prognosis.
Liang S, Wang C, Zhang J, Liu Z, Bai Y, Chen Z, Huang H, He Y
Cardiovasc Diabetol 2023 Jul 6;22(1):170. doi: 10.1186/s12933-023-01906-4. PMID: 37415168Free PMC Article
IPNA clinical practice recommendations for the diagnosis and management of children with steroid-sensitive nephrotic syndrome.
Trautmann A, Boyer O, Hodson E, Bagga A, Gipson DS, Samuel S, Wetzels J, Alhasan K, Banerjee S, Bhimma R, Bonilla-Felix M, Cano F, Christian M, Hahn D, Kang HG, Nakanishi K, Safouh H, Trachtman H, Xu H, Cook W, Vivarelli M, Haffner D; International Pediatric Nephrology Association
Pediatr Nephrol 2023 Mar;38(3):877-919. Epub 2022 Oct 21 doi: 10.1007/s00467-022-05739-3. PMID: 36269406Free PMC Article
Cardiac Toxicity Associated with Immune Checkpoint Inhibitors: A Systematic Review.
Cozma A, Sporis ND, Lazar AL, Buruiana A, Ganea AM, Malinescu TV, Berechet BM, Fodor A, Sitar-Taut AV, Vlad VC, Negrean V, Orasan OH
Int J Mol Sci 2022 Sep 19;23(18) doi: 10.3390/ijms231810948. PMID: 36142866Free PMC Article
Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review.
Falsaperla R, Sciuto L, La Spina L, Sciuto S, Praticò AD, Ruggieri M
Metab Brain Dis 2021 Dec;36(8):2195-2203. Epub 2021 Aug 17 doi: 10.1007/s11011-021-00798-1. PMID: 34403026Free PMC Article
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C
Orphanet J Rare Dis 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. PMID: 25874378Free PMC Article

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