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Diabetes mellitus, permanent neonatal 4(PNDM4)

MedGen UID:
1711191
Concept ID:
C5394307
Disease or Syndrome
Synonyms: DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4
 
Gene (location): INS (11p15.5)
 
Monarch Initiative: MONDO:0030089
OMIM®: 618858

Definition

Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life (summary by Polak et al., 2008). For a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 (606176). [from OMIM]

Clinical features

From HPO
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.
Elevated hemoglobin A1c
MedGen UID:
892798
Concept ID:
C4073162
Finding
An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.
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.
Diabetic ketoacidosis
MedGen UID:
8351
Concept ID:
C0011880
Disease or Syndrome
A type of diabetic metabolic abnormality with an accumulation of ketone bodies.
Hyperglycemia
MedGen UID:
5689
Concept ID:
C0020456
Disease or Syndrome
An increased concentration of glucose in the blood.
Reduced C-peptide level
MedGen UID:
909412
Concept ID:
C4280764
Finding
A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion.

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
Bonfanti R, Iafusco D, Rabbone I, Diedenhofen G, Bizzarri C, Patera PI, Reinstadler P, Costantino F, Calcaterra V, Iughetti L, Savastio S, Favia A, Cardella F, Lo Presti D, Girtler Y, Rabbiosi S, D'Annunzio G, Zanfardino A, Piscopo A, Casaburo F, Pintomalli L, Russo L, Grasso V, Minuto N, Mucciolo M, Novelli A, Marucci A, Piccini B, Toni S, Silvestri F, Carrera P, Rigamonti A, Frontino G, Trada M, Tinti D, Delvecchio M, Rapini N, Schiaffini R, Mammì C, Barbetti F; Diabetes Study Group of ISPED
Eur J Endocrinol 2021 Apr;184(4):575-585. doi: 10.1530/EJE-20-1030. PMID: 33606663
Denkboy Öngen Y, Eren E, Demirbaş Ö, Sobu E, Ellard S, De Franco E, Tarım Ö
J Clin Res Pediatr Endocrinol 2021 Feb 26;13(1):80-87. Epub 2020 Aug 21 doi: 10.4274/jcrpe.galenos.2020.2020.0093. PMID: 32820876Free PMC Article

Recent clinical studies

Etiology

Bonfanti R, Iafusco D, Rabbone I, Diedenhofen G, Bizzarri C, Patera PI, Reinstadler P, Costantino F, Calcaterra V, Iughetti L, Savastio S, Favia A, Cardella F, Lo Presti D, Girtler Y, Rabbiosi S, D'Annunzio G, Zanfardino A, Piscopo A, Casaburo F, Pintomalli L, Russo L, Grasso V, Minuto N, Mucciolo M, Novelli A, Marucci A, Piccini B, Toni S, Silvestri F, Carrera P, Rigamonti A, Frontino G, Trada M, Tinti D, Delvecchio M, Rapini N, Schiaffini R, Mammì C, Barbetti F; Diabetes Study Group of ISPED
Eur J Endocrinol 2021 Apr;184(4):575-585. doi: 10.1530/EJE-20-1030. PMID: 33606663
Gaál Z, Balogh I
Exp Suppl 2019;111:385-416. doi: 10.1007/978-3-030-25905-1_18. PMID: 31588541
Bowman P, Day J, Torrens L, Shepherd MH, Knight BA, Ford TJ, Flanagan SE, Chakera A, Hattersley AT, Zeman A
Diabetes Care 2019 Feb;42(2):215-224. Epub 2018 Oct 30 doi: 10.2337/dc18-1060. PMID: 30377186Free PMC Article
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

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
Bonfanti R, Iafusco D, Rabbone I, Diedenhofen G, Bizzarri C, Patera PI, Reinstadler P, Costantino F, Calcaterra V, Iughetti L, Savastio S, Favia A, Cardella F, Lo Presti D, Girtler Y, Rabbiosi S, D'Annunzio G, Zanfardino A, Piscopo A, Casaburo F, Pintomalli L, Russo L, Grasso V, Minuto N, Mucciolo M, Novelli A, Marucci A, Piccini B, Toni S, Silvestri F, Carrera P, Rigamonti A, Frontino G, Trada M, Tinti D, Delvecchio M, Rapini N, Schiaffini R, Mammì C, Barbetti F; Diabetes Study Group of ISPED
Eur J Endocrinol 2021 Apr;184(4):575-585. doi: 10.1530/EJE-20-1030. PMID: 33606663
Denkboy Öngen Y, Eren E, Demirbaş Ö, Sobu E, Ellard S, De Franco E, Tarım Ö
J Clin Res Pediatr Endocrinol 2021 Feb 26;13(1):80-87. Epub 2020 Aug 21 doi: 10.4274/jcrpe.galenos.2020.2020.0093. PMID: 32820876Free PMC Article
Bowman P, Day J, Torrens L, Shepherd MH, Knight BA, Ford TJ, Flanagan SE, Chakera A, Hattersley AT, Zeman A
Diabetes Care 2019 Feb;42(2):215-224. Epub 2018 Oct 30 doi: 10.2337/dc18-1060. PMID: 30377186Free PMC Article
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

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
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
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
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
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

Denkboy Öngen Y, Eren E, Demirbaş Ö, Sobu E, Ellard S, De Franco E, Tarım Ö
J Clin Res Pediatr Endocrinol 2021 Feb 26;13(1):80-87. Epub 2020 Aug 21 doi: 10.4274/jcrpe.galenos.2020.2020.0093. PMID: 32820876Free PMC Article
Gaál Z, Balogh I
Exp Suppl 2019;111:385-416. doi: 10.1007/978-3-030-25905-1_18. PMID: 31588541
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
Habeb AM, Al-Magamsi MS, Eid IM, Ali MI, Hattersley AT, Hussain K, Ellard S
Pediatr Diabetes 2012 Sep;13(6):499-505. Epub 2011 Nov 8 doi: 10.1111/j.1399-5448.2011.00828.x. PMID: 22060631

Clinical prediction guides

Denkboy Öngen Y, Eren E, Demirbaş Ö, Sobu E, Ellard S, De Franco E, Tarım Ö
J Clin Res Pediatr Endocrinol 2021 Feb 26;13(1):80-87. Epub 2020 Aug 21 doi: 10.4274/jcrpe.galenos.2020.2020.0093. PMID: 32820876Free PMC Article
Johnson MB, De Franco E, Greeley SAW, Letourneau LR, Gillespie KM; International DS-PNDM Consortium, Wakeling MN, Ellard S, Flanagan SE, Patel KA, Hattersley AT
Diabetes 2019 Jul;68(7):1528-1535. Epub 2019 Apr 8 doi: 10.2337/db19-0045. PMID: 30962220Free PMC Article
Bowman P, Day J, Torrens L, Shepherd MH, Knight BA, Ford TJ, Flanagan SE, Chakera A, Hattersley AT, Zeman A
Diabetes Care 2019 Feb;42(2):215-224. Epub 2018 Oct 30 doi: 10.2337/dc18-1060. PMID: 30377186Free PMC Article
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

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