Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation

European Journal of Pediatrics

Volumn 172, Issue 8, 2013, Pages 1125-1129

  Hovnik, Tinka ^a   Bratanič, Nevenka ^a   Podkrajšek, Katarina Trebušak ^a   Kovač, Jernej ^a   Paro, Darja ^a   Podnar, Tomaž ^a   Bratina, Nataša ^a   Battelino, Tadej ^a,b  

^a UNIVERSITY CHILDREN S HOSPITAL   (Slovenia)

^b UNIVERSITY OF LJUBLJANA   (Slovenia)

Author keywords

Donohue syndrome; Insulin receptor; Insulin resistance; Mutation

Indexed keywords

INSULIN; INSULIN RECEPTOR; POTASSIUM CHLORIDE; PROPRANOLOL; RECOMBINANT SOMATOMEDIN C; SODIUM CHLORIDE;

ACANTHOSIS NIGRICANS; ARTICLE; AUTOPHOSPHORYLATION; CASE REPORT; CONTINUOUS INFUSION; FIBROBLAST; HUMAN; HYPERGLYCEMIA; HYPERINSULINEMIA; HYPERTRICHOSIS; HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY; HYPOKALEMIA; HYPONATREMIA; INFANT; KIDNEY CALCIFICATION; KIDNEY TUBULE DISORDER; LEPRECHAUNISM; MALE; METABOLIC ALKALOSIS; MISSENSE MUTATION; PRIORITY JOURNAL;

CARDIOMYOPATHY, HYPERTROPHIC; DONOHUE SYNDROME; FATAL OUTCOME; GROWTH DISORDERS; HUMANS; INSULIN RESISTANCE; INSULIN-LIKE GROWTH FACTOR I; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MUTATION, MISSENSE; PROPRANOLOL; RECEPTOR, INSULIN;

EID: 84881118694     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-012-1901-7     Document Type: Article

References (17)

1. Baykan A, Cansever M, Konuskan B, Nihal H, Kazim U, Nazami N (2008) Hypertrophic Cardiomyopathy with Leprechaunism. J Pediatr Endocrinol Metab 21:317-318
2. Brisigotti M, Fabbaretti G, Pesce F, Gatti R, Cohen A, Parenti G, Callea F (1993) Congenital bilateral juvenile granulosa cell tumor in leprechaunism: a case report. Pediatr Pathol 13:549-558
3. Clemmons DR (2006) Involvement of Insulin-like growth factor-I in the control of glucose homeostasis. Curr Opin Pharmacol 6:620-625
4. DeFronzo R, Cooke CR, Anders R, Faloona GR, Davis PJ (1975) The effect of insulin on renal handling of sodium, potassium, calcium, and phosphate in man. J Clin Invest 55:845-855
5. Kopple JD, Ding H, Hirschberg R (1995) Effects of recombinant human insulin-like growth factor 1 on renal handling of phosphorus, calcium, and sodium in normal humans. Am J Kidney Dis 26:818-824
6. Lee CT, Lien YH, Lai LW, Chen JB, Lin CR, Chen HC (2006) Increased renal calcium and magnesium transporter abundance in streptozotocin-induced diabetes mellitus. Kidney Int 69:1786-1791
7. Longo N, Singh R, Griffin LD, Langley SD, Parks JS, Elsas LJ (1994) Impaired Growth in Rabson-Mendenhall Syndrome: lack of effect of growth hormone and insulin-like growth factor-I. J Clin Endocrinol Med 79:799-805
8. Longo N, Wang Y, Smith SA, Langley SD, DiMeglio LA, Giannella-Neto D (2002) Genotype-phenotype correlation in severe insulin resistance. Hum Mol Genet 11:465-475
9. Maassen JA, Tobias ES, Kayserilli H, Tukel T, Yuksel-Apak M, D'Haens E, Kleijer WJ, Féry F, van der Zon GC (2003) Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. J Clin Endocrinol Metab 88:4251-4257
10. McDonald A, Williams RM, Regan FM, Semple RK, Dunger DB (2007) IGF-I treatment of insulin resistance. Eur J Endocrinol 157:S51-S56
11. Mehta A, Hussain K (2003) Transient hyperinsulinism associated with macrosomia, hypertrophic obstructive cardiomyopathy, hepatomegaly, and nephromegaly. Arch Dis Child 88:822-824
12. Nakae J, Kato M, Murashita M, Shinohara N, Tajima T, Fujieda K (1998) Long-term effect of recombinant human insulin-like growth factor I on metabolic and growth control in a patient with leprechaunism. J Clin Endocrinol Metab 83:542-549
13. Nobile S, Semple RK, Carnielli VP (2012) A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure. J Pediatr Endocr Met 25:363-366
14. Ottensmeyer FP, Beniac DR, Luo RZ, Yip CC (2000) Mechanism of transmembrane signaling: insulin binding and the insulin receptor. Biochemistry 39(40):12103-12112
15. Princen F, Bard E, Sheikh F, Zhang SS, Wang J, Zago WM et al (2009) Deletion of Shp2 thyrosine phosphatase in muscle leads to dilated cardiomyopathy, insulin resistance, and premature death. Mol Cell Biol 29:378-388
16. Taylor SI, Cama A, Accili D, Barbetti F, Quon MJ, de la Luz SM et al (1992) Mutations in the insulin receptor gene. Endocr Rev 13:566-595
17. Thiel CT, Knebel B, Knerr I, Sticht H, Müller-Wieland D, Zenker M, Reis A, Dörr HG, Rauch A (2008) Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome. Mol Genet Metab 94(3):356-362