Hyperinsulinism in syndromal disorders

被引:22
作者
Meissner, T
Rabl, W
Mohnike, K
Scholl, S
Santer, R
Mayatepek, E
机构
[1] Univ Childrens Hosp, Div Metab & Endocrine Dis, DE-9120 Heidelberg, Germany
[2] Tech Univ, Childrens Hosp, Munich, Germany
[3] Univ Childrens Hosp, Magdeburg, Germany
[4] Univ Childrens Hosp, Hannover, Germany
[5] Univ Childrens Hosp, Kiel, Germany
关键词
congenital central hypoventilation syndrome; congenital disorder of glycosylation; hyperinsulinism; hypoglycaemia; syndromal phenotype;
D O I
10.1080/08035250152509546
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Analysis of a German database comprising a total of 54 patients with neonatal manifestations of persistent hyperinsulinism revealed 5 patients in whom hyperinsulinism was associated with additional clinical symptoms, suggesting an underlying syndromal disorder. Three of the patients presented with a similar yet unknown clinical entity characterized by severe psychomotor retardation, chronic pulmonary disease, hypothyroidism and congenital heart defects. A fourth patient was affected by severe congenital central hypoventilation syndrome. The fifth patient presented with Beckwith-Wiedemann syndrome, with unusually severe and persistent hyperinsulinism requiring subtotal pancreatectomy. Conclusion: Our results indicate that, in addition to the well-known biochemical pathways, more complex pathophysiological mechanisms can result in persistent hyperinsulinism that presents clinically with a disease involving multiple organs.
引用
收藏
页码:856 / 859
页数:4
相关论文
共 17 条
  • [1] Mutations of the RET-GDNF signaling pathway in Ondine's curse
    Amiel, J
    Salomon, R
    Attie, T
    Pelet, A
    Trang, H
    Mokhtari, M
    Gaultier, C
    Munnich, A
    Lyonnet, S
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (03) : 715 - 717
  • [2] NESIDIOBLASTOSIS OF THE PANCREAS - DEFINITION OF THE SYNDROME AND THE MANAGEMENT OF THE SEVERE NEONATAL HYPERINSULINEMIC HYPOGLYCEMIA
    AYNSLEYGREEN, A
    POLAK, JM
    BLOOM, SR
    GOUGH, MH
    KEELING, J
    ASHCROFT, SJH
    TURNER, RC
    BAUM, JD
    [J]. ARCHIVES OF DISEASE IN CHILDHOOD, 1981, 56 (07) : 496 - 508
  • [3] Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome
    Babovic-Vuksanovic, D
    Patterson, MC
    Schwenk, WF
    O'Brien, JF
    Vockley, J
    Freeze, HH
    Mehta, DP
    Michels, VV
    [J]. JOURNAL OF PEDIATRICS, 1999, 135 (06) : 775 - 781
  • [4] BEINBRECH B, 1999, NESIDIOBLASTOSE MOL, P83
  • [5] BEINBRECH B, 1990, J INHERIT METAB DIS, V21, P130
  • [6] A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
    Bitner-Glindzicz, M
    Lindley, KJ
    Rutland, P
    Blaydon, D
    Smith, VV
    Milla, PJ
    Hussain, K
    Furth-Lavi, J
    Cosgrove, KE
    Shepherd, RM
    Barnes, PD
    O'Brien, RE
    Farndon, PA
    Sowden, J
    Liu, XZ
    Scanlan, MJ
    Malcolm, S
    Dunne, MJ
    Aynsley-Green, A
    Glaser, B
    [J]. NATURE GENETICS, 2000, 26 (01) : 56 - 60
  • [7] Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome
    Bolk, S
    Angrist, M
    Xie, J
    Yanagisawa, M
    Silvestri, JM
    WeeseMayer, DE
    Chakravarti, A
    [J]. NATURE GENETICS, 1996, 13 (04) : 395 - 396
  • [8] Hypersulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose
    de Lonlay, P
    Cuer, M
    Vuillaumier-Barrot, S
    Beaune, G
    Castelnau, P
    Kretz, M
    Durand, G
    Saudubray, JM
    Seta, N
    [J]. JOURNAL OF PEDIATRICS, 1999, 135 (03) : 379 - 383
  • [9] Hypoglycemia in Beckwith-Wiedemann syndrome
    DeBaun, MR
    King, AA
    White, N
    [J]. SEMINARS IN PERINATOLOGY, 2000, 24 (02) : 164 - 171