Monogenic diabetes: A single center experience from South India

被引:2
作者
Lakshmanan, Nivethitha Karthika [1 ]
Pavithran, Praveen, V [1 ]
Bhavani, Nisha [1 ]
Abraham, Nithya [1 ]
Kumar, Harish [1 ]
Nair, Vasantha [1 ]
Menon, Usha [1 ]
Menon, Arun S. [1 ]
Narayanan, Prem [1 ]
Lakshmi, Geetha [1 ]
机构
[1] Amrita Inst Med Sci AIMS, Dept Endocrinol, Cochin, Kerala, India
关键词
monogenic diabetes; neonatal diabetes mellitus; syndromic diabetes; Wolfram syndrome; YOUNG; THERAPY;
D O I
10.1111/pedi.13040
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Monogenic forms of diabetes in children are frequently misclassified as either type 1 diabetes or young-onset type 2 diabetes. There is a paucity of literature regarding pediatric monogenic diabetes in the Indian population. A retrospective analysis of case records of 37 children with monogenic diabetes who were diagnosed between 2008 and 2019 in a South Indian tertiary care center was performed. The write-up describes the clinical, biochemical, and genetic characterization of these patients with the diagnoses of neonatal diabetes mellitus (15 patients), MODY (five patients), and various forms of syndromic diabetes (13 with Wolfram syndrome, two with H syndrome, one with mitochondrial diabetes, and one with thiamine responsive megaloblastic anemia).
引用
收藏
页码:75 / 81
页数:7
相关论文
共 20 条
  • [1] Wolfram Syndrome: New Mutations, Different Phenotype
    Aloi, Concetta
    Salina, Alessandro
    Pasquali, Lorenzo
    Lugani, Francesca
    Perri, Katia
    Russo, Chiara
    Tallone, Ramona
    Ghiggeri, Gian Marco
    Lorini, Renata
    d'Annunzio, Giuseppe
    [J]. PLOS ONE, 2012, 7 (01):
  • [2] Prediction of autoantibody positivity and progression to type 1 diabetes: Diabetes Autoimmunity Study in the Young (DAISY)
    Barker, JM
    Barriga, KJ
    Yu, LP
    Miao, DM
    Erlich, HA
    Norris, JM
    Eisenbarth, GS
    Rewers, M
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2004, 89 (08) : 3896 - 3902
  • [3] NEURODEGENERATION AND DIABETES - UK NATIONWIDE STUDY OF WOLFRAM (DIDMOAD) SYNDROME
    BARRETT, TG
    BUNDEY, SE
    MACLEOD, AF
    [J]. LANCET, 1995, 346 (8988) : 1458 - 1463
  • [4] Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing
    Chapla, Aaron
    Mruthyunjaya, Mahesh Doddabelavangala
    Asha, Hesarghatta Shyamasunder
    Varghese, Denny
    Varshney, Manika
    Vasan, Senthil K.
    Venkatesan, Padmanaban
    Nair, Veena
    Mathai, Sarah
    Paul, Thomas Vizhalil
    Thomas, Nihal
    [J]. CLINICAL ENDOCRINOLOGY, 2015, 82 (04) : 533 - 542
  • [5] Cremers CW, 1977, ACTA PAEDIATR SCAND, V264, pS3
  • [6] Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012
    Delvecchio, Maurizio
    Mozzillo, Enza
    Salzano, Giuseppina
    Iafusco, Dario
    Frontino, Giulio
    Patera, Patrizia I.
    Rabbone, Ivana
    Cherubini, Valentino
    Grasso, Valeria
    Tinto, Nadia
    Giglio, Sabrina
    Contreas, Giovanna
    Di Paola, Rosa
    Salina, Alessandro
    Cauvin, Vittoria
    Tumini, Stefano
    d'Annunzio, Giuseppe
    Iughetti, Lorenzo
    Mantovani, Vilma
    Maltoni, Giulio
    Toni, Sonia
    Marigliano, Marco
    Barbetti, Fabrizio
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2017, 102 (06) : 1826 - 1834
  • [7] Neonatal diabetes: A case series
    Ganesh, Ramaswamy
    Suresh, Natarajan
    Vasanthi, Thiruvengadam
    Ravikumar, K. G.
    [J]. INDIAN PEDIATRICS, 2017, 54 (01) : 33 - 36
  • [8] Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India
    Ganie, M. A.
    Laway, B. A.
    Nisar, S.
    Wani, M. M.
    Khurana, M. L.
    Ahmad, F.
    Ahmed, S.
    Gupta, P.
    Ali, I.
    Shabir, I.
    Shadan, A.
    Ahmed, A.
    Tufail, S.
    [J]. DIABETIC MEDICINE, 2011, 28 (11) : 1337 - 1342
  • [9] Clinical features and treatment of maturity onset diabetes of the young (MODY)
    Gardner, Daphne S. L.
    Tai, E. Shyong
    [J]. DIABETES METABOLIC SYNDROME AND OBESITY-TARGETS AND THERAPY, 2012, 5 : 101 - 108
  • [10] Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome
    Habeb, Abdelhadi M.
    Flanagan, Sarah E.
    Zulali, Mohamed A.
    Abdullah, Mohamed A.
    Pomahacova, Renata
    Boyadzhiev, Veselin
    Colindres, Lesby E.
    Godoy, Guillermo V.
    Vasanthi, Thiruvengadam
    Al Saif, Ramlah
    Setoodeh, Aria
    Haghighi, Amirreza
    Haghighi, Alireza
    Shaalan, Yomna
    Hattersley, Andrew T.
    Ellard, Sian
    De Franco, Elisa
    [J]. DIABETOLOGIA, 2018, 61 (05) : 1027 - 1036