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Neonatal diabetes mellitus(NDM)

MedGen UID:
57645
Concept ID:
C0158981
Disease or Syndrome
Synonym: NDM
SNOMED CT: Neonatal diabetes mellitus (49817004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Related genes: ZFP57, HYMAI, ABCC8, KCNJ11, PDX1, INS, GCK
 
Monarch Initiative: MONDO:0016391
Orphanet: ORPHA224

Definition

Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life. [from ORDO]

Professional guidelines

PubMed

Barbetti F, D'Annunzio G
Best Pract Res Clin Endocrinol Metab 2018 Aug;32(4):575-591. Epub 2018 Jun 25 doi: 10.1016/j.beem.2018.06.008. PMID: 30086875
Lemelman MB, Letourneau L, Greeley SAW
Clin Perinatol 2018 Mar;45(1):41-59. Epub 2017 Dec 16 doi: 10.1016/j.clp.2017.10.006. PMID: 29406006Free PMC Article
Mackay D, Bens S, Perez de Nanclares G, Siebert R, Temple IK
Eur J Hum Genet 2014 Sep;22(9) Epub 2014 Feb 26 doi: 10.1038/ejhg.2014.27. PMID: 24569603Free PMC Article

Recent clinical studies

Etiology

Rapini N, Delvecchio M, Mucciolo M, Ruta R, Rabbone I, Cherubini V, Zucchini S, Cianfarani S, Prandi E, Schiaffini R, Bizzarri C, Piccini B, Maltoni G, Predieri B, Minuto N, Di Paola R, Giordano M, Tinto N, Grasso V, Russo L, Tiberi V, Scaramuzza A, Frontino G, Maggio MC, Musolino G, Piccinno E, Tinti D, Carrera P, Mozzillo E, Cappa M, Iafusco D, Bonfanti R, Novelli A, Barbetti F; Diabetes Study Group of Italian Society for Pediatric Endocrinology and Diabetes (ISPED)
J Clin Endocrinol Metab 2024 Aug 13;109(9):2349-2357. doi: 10.1210/clinem/dgae095. PMID: 38408297Free PMC Article
Liang B, Yu D, Zhao W, Wang Y, Wang X, Wu X, Chen L, Chen M, Zhang M, Chen X, Lin N, Huang H, Xu L
J Hum Genet 2022 Nov;67(11):629-638. Epub 2022 Jul 27 doi: 10.1038/s10038-022-01062-9. PMID: 35896820
Li M, Han X, Ji L
J Diabetes Res 2021;2021:9479268. Epub 2021 Sep 30 doi: 10.1155/2021/9479268. PMID: 34631896Free PMC Article
Shah N, Karguppikar MB, Khadilkar V, Khadilkar A
BMJ Case Rep 2021 May 13;14(5) doi: 10.1136/bcr-2021-242376. PMID: 33986015Free PMC Article
Gaál Z, Balogh I
Exp Suppl 2019;111:385-416. doi: 10.1007/978-3-030-25905-1_18. PMID: 31588541

Diagnosis

Lemelman MB, Letourneau L, Greeley SAW
Clin Perinatol 2018 Mar;45(1):41-59. Epub 2017 Dec 16 doi: 10.1016/j.clp.2017.10.006. PMID: 29406006Free PMC Article
Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanné-Chantelot C, Ellard S, Gloyn AL
Hum Mutat 2009 Nov;30(11):1512-26. doi: 10.1002/humu.21110. PMID: 19790256
Aguilar-Bryan L, Bryan J
Endocr Rev 2008 May;29(3):265-91. Epub 2008 Apr 24 doi: 10.1210/er.2007-0029. PMID: 18436707Free PMC Article
Tammaro P
Endocr Dev 2007;11:70-82. doi: 10.1159/000111059. PMID: 17986828
Stewart C, Redmond A
Ulster Med J 2000 May;69(1):71-3. PMID: 10881652Free PMC Article

Therapy

Tikhonovich Y, Petryaykina E, Zubkova N, Garyaeva I, Tiulpakov A
Acta Diabetol 2022 Sep;59(9):1251-1253. Epub 2022 Jun 1 doi: 10.1007/s00592-022-01904-0. PMID: 35648253
Dalwadi P, Joshi AS, Thakur DS, Bhagwat NM
BMJ Case Rep 2019 Jun 25;12(6) doi: 10.1136/bcr-2018-228806. PMID: 31243025Free PMC Article
Lemelman MB, Letourneau L, Greeley SAW
Clin Perinatol 2018 Mar;45(1):41-59. Epub 2017 Dec 16 doi: 10.1016/j.clp.2017.10.006. PMID: 29406006Free PMC Article
Rabbone I, Barbetti F, Gentilella R, Mossetto G, Bonfanti R, Maffeis C, Iafusco D, Piccinno E
Diabetes Res Clin Pract 2017 Jul;129:126-135. Epub 2017 Apr 13 doi: 10.1016/j.diabres.2017.04.007. PMID: 28527303
Stewart C, Redmond A
Ulster Med J 2000 May;69(1):71-3. PMID: 10881652Free PMC Article

Prognosis

Rapini N, Delvecchio M, Mucciolo M, Ruta R, Rabbone I, Cherubini V, Zucchini S, Cianfarani S, Prandi E, Schiaffini R, Bizzarri C, Piccini B, Maltoni G, Predieri B, Minuto N, Di Paola R, Giordano M, Tinto N, Grasso V, Russo L, Tiberi V, Scaramuzza A, Frontino G, Maggio MC, Musolino G, Piccinno E, Tinti D, Carrera P, Mozzillo E, Cappa M, Iafusco D, Bonfanti R, Novelli A, Barbetti F; Diabetes Study Group of Italian Society for Pediatric Endocrinology and Diabetes (ISPED)
J Clin Endocrinol Metab 2024 Aug 13;109(9):2349-2357. doi: 10.1210/clinem/dgae095. PMID: 38408297Free PMC Article
Sousa M, Bruges-Armas J
Curr Diabetes Rev 2020;16(8):807-819. doi: 10.2174/1573399816666191230114352. PMID: 31886753
Touati A, Errea-Dorronsoro J, Nouri S, Halleb Y, Pereda A, Mahdhaoui N, Ghith A, Saad A, Perez de Nanclares G, H'mida Ben Brahim D
Acta Diabetol 2019 Mar;56(3):301-307. Epub 2018 Oct 13 doi: 10.1007/s00592-018-1239-3. PMID: 30315371
Lemelman MB, Letourneau L, Greeley SAW
Clin Perinatol 2018 Mar;45(1):41-59. Epub 2017 Dec 16 doi: 10.1016/j.clp.2017.10.006. PMID: 29406006Free PMC Article
Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanné-Chantelot C, Ellard S, Gloyn AL
Hum Mutat 2009 Nov;30(11):1512-26. doi: 10.1002/humu.21110. PMID: 19790256

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
Lemelman MB, Letourneau L, Greeley SAW
Clin Perinatol 2018 Mar;45(1):41-59. Epub 2017 Dec 16 doi: 10.1016/j.clp.2017.10.006. PMID: 29406006Free 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
Stekelenburg CM, Schwitzgebel VM
Endocr Dev 2016;31:179-202. Epub 2016 Jan 19 doi: 10.1159/000439417. PMID: 26824366
Mackay DJ, Temple IK
Am J Med Genet C Semin Med Genet 2010 Aug 15;154C(3):335-42. doi: 10.1002/ajmg.c.30272. PMID: 20803656

Recent systematic reviews

Chen Y, Hu X, Zhao M
J Diabetes 2024 Mar;16(3):e13520. Epub 2023 Dec 14 doi: 10.1111/1753-0407.13520. PMID: 38095268Free PMC Article
Hou AN, Wang Y, Pan YQ
J Clin Immunol 2023 Jul;43(5):979-988. Epub 2023 Mar 3 doi: 10.1007/s10875-023-01456-0. PMID: 36867340
Li M, Han X, Ji L
J Diabetes Res 2021;2021:9479268. Epub 2021 Sep 30 doi: 10.1155/2021/9479268. PMID: 34631896Free PMC Article
Arneth B
Endocrine 2020 Dec;70(3):488-497. Epub 2020 Jul 12 doi: 10.1007/s12020-020-02413-2. PMID: 32656694
Cortessis VK, Azadian M, Buxbaum J, Sanogo F, Song AY, Sriprasert I, Wei PC, Yu J, Chung K, Siegmund KD
J Assist Reprod Genet 2018 Jun;35(6):943-952. Epub 2018 Apr 25 doi: 10.1007/s10815-018-1173-x. PMID: 29696471Free PMC Article

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