Das Donohue-Syndrom (Leprechaunismus) ist eine autosomal rezessive Erkrankung, die durch eine loss-of-function Mutation des Insulinrezeptors hervorgerufen wird. Die Folge sind Hyperinsulinismus und verschiedene körperliche Abnormalitäten: Einschrämkung des Wachstums, Lipoatrophie, Charakteristische Gesichtsveränderungen, Acanthosis nigrans und eine Insulinresistenz.
Das Syndrom wurde zuerst von Donohue und Uchida im Jahr 1954 beschrieben. Es weist viele Ähnlichkeiten zu dem wenig später publizierten Rabson-Mendenhall-Syndrom auf.[Error: Macro 'ref' doesn't exist]
Acanthosis nigricans | |
Die Insulinresistenz beim Leprechaunismus ist von einer Acanthosis nigricans begleitet. |
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14. |
Geffner ME et al. (1987) Leprechaunism: in vitro insulin action despite genetic insulin resistance. |
16. |
Schilling EE et al. (1979) Primary defect of insulin receptors in skin fibroblasts cultured from an infant with leprechaunism and insulin resistance. |
17. |
Reddy SS et al. (1989) Epidermal growth factor receptor defects in leprechaunism. A multiple growth factor-resistant syndrome. |
18. |
Kobayashi M et al. (1978) Insulin resistance due to a defect distal to the insulin receptor: demonstration in a patient with leprechaunism. |
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20. |
CLARK DR et al. (1948) Dysendocrinism. |
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PATTERSON JH et al. (1962) Leprechaunism in a male infant. |
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SALMON MA et al. (1963) DYSTROPHIC CHANGES ASSOCIATED WITH LEPRECHAUNISM IN A MALE INFANT. |
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LAKATOS I et al. (1963) [Leprechaunism (Donohue syndrome)]. |
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None (1955) Leprechaunism. |
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DONOHUE WL et al. (1954) Leprechaunism: a euphemism for a rare familial disorder. |
26. |
Hone J et al. (1994) Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistance. |
27. |
OMIM.ORG article Omim 246200 |
28. |
Orphanet article Orphanet ID 508 |
29. |
Wikipedia Artikel Wikipedia DE (Leprechaunismus) |