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Diabetes mellitus, permanent neonatal 3(PNDM3)

MedGen UID:
1717271
Concept ID:
C5394303
Disease or Syndrome
Synonyms: DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3
 
Gene (location): ABCC8 (11p15.1)
 
Monarch Initiative: MONDO:0030088
OMIM®: 618857

Definition

Permanent neonatal diabetes mellitus-3 (PNDM3) is characterized by the onset of mild to severe hyperglycemia within the first months of life, and requires lifelong therapy (summary by Babenko et al., 2006). Some patients also have neurologic features, including developmental delay and epilepsy (Proks et al., 2006; Babenko et al., 2006). The triad of developmental delay, epilepsy, and neonatal diabetes is known as DEND. For a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 (606176). [from OMIM]

Clinical features

From HPO
Glycosuria
MedGen UID:
42267
Concept ID:
C0017979
Finding
An increased concentration of glucose in the urine.
Ketonuria
MedGen UID:
56402
Concept ID:
C0162275
Finding
High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.
Small for gestational age
MedGen UID:
65920
Concept ID:
C0235991
Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Athetosis
MedGen UID:
2115
Concept ID:
C0004158
Disease or Syndrome
A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Interictal epileptiform activity
MedGen UID:
869073
Concept ID:
C4023491
Finding
Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Difficulty standing
MedGen UID:
69136
Concept ID:
C0241237
Sign or Symptom
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
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.
Hyperglycemia
MedGen UID:
5689
Concept ID:
C0020456
Disease or Syndrome
An increased concentration of glucose in the blood.

Professional guidelines

PubMed

Ngoc CTB, Dien TM, De Franco E, Ellard S, Houghton JAL, Lan NN, Thao BP, Khanh NN, Flanagan SE, Craig ME, Dung VC
Front Endocrinol (Lausanne) 2021;12:727083. Epub 2021 Sep 9 doi: 10.3389/fendo.2021.727083. PMID: 34566892Free PMC Article
Abbasi F, Habibi M, Enayati S, Bitarafan F, Razzaghy-Azar M, Sotodeh A, Omran SP, Maroofian R, Amoli MM
Can J Diabetes 2018 Jun;42(3):272-275. Epub 2017 Aug 23 doi: 10.1016/j.jcjd.2017.06.009. PMID: 28843469
Kanakatti Shankar R, Pihoker C, Dolan LM, Standiford D, Badaru A, Dabelea D, Rodriguez B, Black MH, Imperatore G, Hattersley A, Ellard S, Gilliam LK; SEARCH for Diabetes in Youth Study Group
Pediatr Diabetes 2013 May;14(3):174-80. Epub 2012 Oct 10 doi: 10.1111/pedi.12003. PMID: 23050777Free PMC Article

Recent clinical studies

Etiology

Mouler M, Lebenthal Y, de Vries L, Yackobovitch-Gavan M, Averbuch NS, Fauret-Amsellem AL, Cavé H, Beltrand J, Polak M, Phillip M, Nimri R
Pediatr Diabetes 2022 Feb;23(1):45-54. Epub 2021 Dec 6 doi: 10.1111/pedi.13295. PMID: 34837310
Li X, Xu A, Sheng H, Ting TH, Mao X, Huang X, Jiang M, Cheng J, Liu L
Pediatr Diabetes 2018 Mar;19(2):251-258. Epub 2017 Aug 8 doi: 10.1111/pedi.12560. PMID: 28791793
Gohar NA, Rabie WA, Sharaf SA, Elsharkawy MM, Mira MF, Tolba AO, Aly H
J Matern Fetal Neonatal Med 2017 May;30(9):1035-1040. Epub 2016 Jul 4 doi: 10.1080/14767058.2016.1199674. PMID: 27279137
Babiker T, Vedovato N, Patel K, Thomas N, Finn R, Männikkö R, Chakera AJ, Flanagan SE, Shepherd MH, Ellard S, Ashcroft FM, Hattersley AT
Diabetologia 2016 Jun;59(6):1162-6. Epub 2016 Mar 31 doi: 10.1007/s00125-016-3921-8. PMID: 27033559Free PMC Article
Kanakatti Shankar R, Pihoker C, Dolan LM, Standiford D, Badaru A, Dabelea D, Rodriguez B, Black MH, Imperatore G, Hattersley A, Ellard S, Gilliam LK; SEARCH for Diabetes in Youth Study Group
Pediatr Diabetes 2013 May;14(3):174-80. Epub 2012 Oct 10 doi: 10.1111/pedi.12003. PMID: 23050777Free PMC Article

Diagnosis

Ngoc CTB, Dung VC, De Franco E, Lan NN, Thao BP, Khanh NN, Flanagan SE, Craig ME, Hoang NH, Dien TM
Front Endocrinol (Lausanne) 2022;13:866573. Epub 2022 Apr 19 doi: 10.3389/fendo.2022.866573. PMID: 35518939Free PMC Article
McClenaghan C, Rapini N, De Rose DU, Gao J, Roeglin J, Bizzarri C, Schiaffini R, Tiberi E, Mucciolo M, Deodati A, Perri A, Vento G, Barbetti F, Nichols CG, Cianfarani S
Horm Res Paediatr 2022;95(3):215-223. Epub 2022 Jan 7 doi: 10.1159/000521858. PMID: 34999583Free PMC Article
Razzaghy-Azar M, Nourbakhsh M, Talea A, Mohammad Amoli M, Nourbakhsh M, Larijani B
J Med Case Rep 2021 Oct 25;15(1):535. doi: 10.1186/s13256-021-03052-5. PMID: 34696808Free PMC Article
Ganesh R, Suresh N, Vasanthi T, Ravikumar KG
Indian Pediatr 2017 Jan 15;54(1):33-36. Epub 2016 Nov 5 doi: 10.1007/s13312-017-0993-6. PMID: 27889714
Hashimoto Y, Dateki S, Hirose M, Satomura K, Sawada H, Mizuno H, Sugihara S, Maruyama K, Urakami T, Sugawara H, Shirai K, Yorifuji T
Pediatr Diabetes 2017 Nov;18(7):532-539. Epub 2016 Sep 29 doi: 10.1111/pedi.12447. PMID: 27681997

Therapy

Mirza A, Dhillon RA, Irfan O, Amin A, Salat M
J Ayub Med Coll Abbottabad 2022 Jul-Sep;34(Suppl 1)(3):S717-S719. doi: 10.55519/JAMC-03-S1-9858. PMID: 36414599
McClenaghan C, Rapini N, De Rose DU, Gao J, Roeglin J, Bizzarri C, Schiaffini R, Tiberi E, Mucciolo M, Deodati A, Perri A, Vento G, Barbetti F, Nichols CG, Cianfarani S
Horm Res Paediatr 2022;95(3):215-223. Epub 2022 Jan 7 doi: 10.1159/000521858. PMID: 34999583Free PMC Article
Razzaghy-Azar M, Nourbakhsh M, Talea A, Mohammad Amoli M, Nourbakhsh M, Larijani B
J Med Case Rep 2021 Oct 25;15(1):535. doi: 10.1186/s13256-021-03052-5. PMID: 34696808Free PMC Article
Garcin L, Kariyawasam D, Busiah K, Fauret-Amsellem AL, Le Bourgeois F, Vaivre-Douret L, Cavé H, Polak M, Beltrand J
Pediatr Diabetes 2018 Jun;19(4):663-669. Epub 2018 Mar 4 doi: 10.1111/pedi.12635. PMID: 29504184
Hashimoto Y, Dateki S, Hirose M, Satomura K, Sawada H, Mizuno H, Sugihara S, Maruyama K, Urakami T, Sugawara H, Shirai K, Yorifuji T
Pediatr Diabetes 2017 Nov;18(7):532-539. Epub 2016 Sep 29 doi: 10.1111/pedi.12447. PMID: 27681997

Prognosis

Ngoc CTB, Dien TM, De Franco E, Ellard S, Houghton JAL, Lan NN, Thao BP, Khanh NN, Flanagan SE, Craig ME, Dung VC
Front Endocrinol (Lausanne) 2021;12:727083. Epub 2021 Sep 9 doi: 10.3389/fendo.2021.727083. PMID: 34566892Free PMC Article
Fu J, Wang T, Li M, Xiao X
J Diabetes Investig 2020 May;11(3):578-584. Epub 2019 Oct 25 doi: 10.1111/jdi.13156. PMID: 31605659Free PMC Article
Wang T, Ding S, Li S, Guo H, Chen X, Huang Y, Huang J, Wu J, Hu C, Fang C, Hu J
Endocrine 2019 Jun;64(3):719-723. Epub 2019 Mar 26 doi: 10.1007/s12020-019-01905-0. PMID: 30915639
Li X, Xu A, Sheng H, Ting TH, Mao X, Huang X, Jiang M, Cheng J, Liu L
Pediatr Diabetes 2018 Mar;19(2):251-258. Epub 2017 Aug 8 doi: 10.1111/pedi.12560. PMID: 28791793
Kanakatti Shankar R, Pihoker C, Dolan LM, Standiford D, Badaru A, Dabelea D, Rodriguez B, Black MH, Imperatore G, Hattersley A, Ellard S, Gilliam LK; SEARCH for Diabetes in Youth Study Group
Pediatr Diabetes 2013 May;14(3):174-80. Epub 2012 Oct 10 doi: 10.1111/pedi.12003. PMID: 23050777Free PMC Article

Clinical prediction guides

Fu J, Wang T, Li M, Xiao X
J Diabetes Investig 2020 May;11(3):578-584. Epub 2019 Oct 25 doi: 10.1111/jdi.13156. PMID: 31605659Free PMC Article
Wang T, Ding S, Li S, Guo H, Chen X, Huang Y, Huang J, Wu J, Hu C, Fang C, Hu J
Endocrine 2019 Jun;64(3):719-723. Epub 2019 Mar 26 doi: 10.1007/s12020-019-01905-0. PMID: 30915639
Hashimoto Y, Dateki S, Hirose M, Satomura K, Sawada H, Mizuno H, Sugihara S, Maruyama K, Urakami T, Sugawara H, Shirai K, Yorifuji T
Pediatr Diabetes 2017 Nov;18(7):532-539. Epub 2016 Sep 29 doi: 10.1111/pedi.12447. PMID: 27681997
Babiker T, Vedovato N, Patel K, Thomas N, Finn R, Männikkö R, Chakera AJ, Flanagan SE, Shepherd MH, Ellard S, Ashcroft FM, Hattersley AT
Diabetologia 2016 Jun;59(6):1162-6. Epub 2016 Mar 31 doi: 10.1007/s00125-016-3921-8. PMID: 27033559Free PMC Article
Demirbilek H, Arya VB, Ozbek MN, Houghton JA, Baran RT, Akar M, Tekes S, Tuzun H, Mackay DJ, Flanagan SE, Hattersley AT, Ellard S, Hussain K
Eur J Endocrinol 2015 Jun;172(6):697-705. Epub 2015 Mar 9 doi: 10.1530/EJE-14-0852. PMID: 25755231Free PMC Article

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