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Permanent neonatal diabetes mellitus(PNDM)

MedGen UID:
371484
Concept ID:
C1833104
Disease or Syndrome
Synonyms: ABCC8-Related Permanent Neonatal Diabetes Mellitus; INS-Related Permanent Neonatal Diabetes Mellitus; KCNJ11-Related Permanent Neonatal Diabetes Mellitus; PDX1-Related Permanent Neonatal Diabetes Mellitus; Permanent diabetes mellitus of infancy; PNDM
SNOMED CT: Permanent diabetes mellitus of infancy (609565001); Permanent neonatal diabetes mellitus (609565001)
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.
 
Genes (locations): ABCC8 (11p15.1); GCK (7p13); INS (11p15.5); KCNJ11 (11p15.1); PDX1 (13q12.2)
 
Monarch Initiative: MONDO:0100164
OMIM® Phenotypic series: PS606176
Orphanet: ORPHA99885

Disease characteristics

Excerpted from the GeneReview: Permanent Neonatal Diabetes Mellitus
Permanent neonatal diabetes mellitus (PNDM) is characterized by the onset of hyperglycemia within the first six months of life (mean age: 7 weeks; range: birth to 26 weeks). The diabetes mellitus is associated with partial or complete insulin deficiency. Clinical manifestations at the time of diagnosis include intrauterine growth restriction, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Therapy with insulin corrects the hyperglycemia and results in dramatic catch-up growth. The course of PNDM varies by genotype. [from GeneReviews]
Authors:
Diva D De León  |  Charles A Stanley   view full author information

Additional description

From MedlinePlus Genetics
Permanent neonatal diabetes mellitus is a type of diabetes that first appears within the first 6 months of life and persists throughout the lifespan. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy.

Individuals with permanent neonatal diabetes mellitus experience slow growth before birth (intrauterine growth retardation). Affected infants have hyperglycemia and an excessive loss of fluids (dehydration) and are unable to gain weight and grow at the expected rate (failure to thrive).

In some cases, people with permanent neonatal diabetes mellitus also have certain neurological problems, including developmental delay and recurrent seizures (epilepsy). This combination of developmental delay, epilepsy, and neonatal diabetes is called DEND syndrome. Intermediate DEND syndrome is a similar combination but with milder developmental delay and without epilepsy.

A small number of individuals with permanent neonatal diabetes mellitus have an underdeveloped pancreas. Because the pancreas produces digestive enzymes as well as secreting insulin and other hormones, affected individuals experience digestive problems such as fatty stools and an inability to absorb fat-soluble vitamins.  https://medlineplus.gov/genetics/condition/permanent-neonatal-diabetes-mellitus

Professional guidelines

PubMed

Gopi S, Kavitha B, Kanthimathi S, Kannan A, Kumar R, Joshi R, Kanodia S, Arya AD, Pendsey S, Pendsey S, Raghupathy P, Mohan V, Radha V
Pediatr Diabetes 2021 Feb;22(1):82-92. Epub 2020 Sep 15 doi: 10.1111/pedi.13109. PMID: 32893419
Li W, Zhang X, Sun Y, Liu Z
Pharmazie 2020 Jun 1;75(6):230-235. doi: 10.1691/ph.2020.0409. PMID: 32539915
Rubio-Cabezas O, Klupa T, Malecki MT; CEED3 Consortium
Eur J Clin Invest 2011 Mar;41(3):323-33. Epub 2010 Nov 4 doi: 10.1111/j.1365-2362.2010.02409.x. PMID: 21054355

Recent clinical studies

Etiology

Cao L, He Y, Huang Q, Zhang Y, Deng P, Du W, Hua Z, Zhu M, Wei H
Endocrine 2020 Jul;69(1):53-62. Epub 2020 Apr 11 doi: 10.1007/s12020-020-02279-4. PMID: 32279225
Gaál Z, Balogh I
Exp Suppl 2019;111:385-416. doi: 10.1007/978-3-030-25905-1_18. PMID: 31588541
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
Soliman AT, elZalabany MM, Bappal B, alSalmi I, de Silva V, Asfour M
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Bappal B, Raghupathy P, de Silva V, Khusaiby SM
Arch Dis Child Fetal Neonatal Ed 1999 May;80(3):F209-12. doi: 10.1136/fn.80.3.f209. PMID: 10212083Free PMC Article

Diagnosis

Gopi S, Gowri P, Panda JK, Sathyanarayana SO, Gupta S, Chandru S, Chandni R, Raghupathy P, Dayal D, Mohan V, Radha V
J Diabetes Complications 2021 Dec;35(12):108022. Epub 2021 Aug 17 doi: 10.1016/j.jdiacomp.2021.108022. PMID: 34593315
Nagashima K, Tanaka D, Inagaki N
Pediatr Int 2017 Feb;59(2):129-133. doi: 10.1111/ped.13199. PMID: 27809389
Antosik K, Borowiec M
Arch Immunol Ther Exp (Warsz) 2016 Dec;64(Suppl 1):157-160. Epub 2017 Jan 12 doi: 10.1007/s00005-016-0432-8. PMID: 28083605
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
Tammaro P
Endocr Dev 2007;11:70-82. doi: 10.1159/000111059. PMID: 17986828

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
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
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
Khan SA, Parkash A, Ibrahim M
J Coll Physicians Surg Pak 2016 Nov;26(11):114-115. PMID: 28666500
Polak M, Shield J
Semin Neonatol 2004 Feb;9(1):59-65. doi: 10.1016/S1084-2756(03)00064-2. PMID: 15013476

Prognosis

Laimon W, El-Ziny M, El-Hawary A, Elsharkawy A, Salem NA, Aboelenin HM, Awad MH, Flanagan SE, De Franco E
Acta Diabetol 2021 Dec;58(12):1689-1700. Epub 2021 Aug 23 doi: 10.1007/s00592-021-01788-6. PMID: 34426871
Gaál Z, Balogh I
Exp Suppl 2019;111:385-416. doi: 10.1007/978-3-030-25905-1_18. PMID: 31588541
Nagashima K, Tanaka D, Inagaki N
Pediatr Int 2017 Feb;59(2):129-133. doi: 10.1111/ped.13199. PMID: 27809389
Abujbara MA, Liswi MI, El-Khateeb MS, Flanagan SE, Ellard S, Ajlouni KM
J Pediatr Endocrinol Metab 2014 Sep;27(9-10):879-83. doi: 10.1515/jpem-2014-0069. PMID: 24825091
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

Jia P, Wang L, Yang X, Pei W, Xu C, Feng J, Han Y
BMC Med Res Methodol 2024 May 20;24(1):117. doi: 10.1186/s12874-024-02226-1. PMID: 38769533Free 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
Jahnavi S, Poovazhagi V, Kanthimathi S, Gayathri V, Mohan V, Radha V
Pediatr Diabetes 2014 Jun;15(4):313-8. Epub 2013 Oct 30 doi: 10.1111/pedi.12089. PMID: 24168455
Habeb AM, Flanagan SE, Deeb A, Al-Alwan I, Alawneh H, Balafrej AA, Mutair A, Hattersley AT, Hussain K, Ellard S
Arch Dis Child 2012 Aug;97(8):721-3. doi: 10.1136/archdischild-2012-301744. PMID: 22859427
Bappal B, Raghupathy P, de Silva V, Khusaiby SM
Arch Dis Child Fetal Neonatal Ed 1999 May;80(3):F209-12. doi: 10.1136/fn.80.3.f209. PMID: 10212083Free PMC Article

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