Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Leprechaunismus

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.

Geschichtliches

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.[1]

Symptome

Acanthosis nigricans
Die Insulinresistenz beim Leprechaunismus ist von einer Acanthosis nigricans begleitet.

Gliederung

Neonataler Diabetes mellitus
Mitchell-Riley-Syndrom
Neonataler Diabetes mellitus mit angeborener Hypothyreose
Permanenter neonataler Diabetes mellitus
Transienter neonataler Diabetes mellitus 1
Transienter neonataler Diabetes mellitus 2
Transienter neonataler Diabetes mellitus 3

Referenzen:

1.

Hone J et al. (1994) Homozygosity for a new mutation (Ile119-->Met) in the insulin receptor gene in five sibs with familial insulin resistance.

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2.

al-Gazali LI et al. (1993) A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents.

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3.

DONOHUE WL et al. (1954) Leprechaunism: a euphemism for a rare familial disorder.

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4.

EVANS PR et al. (1955) Leprechaunism.

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5.

LAKATOS I et al. (1963) [Leprechaunism (Donohue syndrome)].

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6.

SALMON MA et al. (1963) DYSTROPHIC CHANGES ASSOCIATED WITH LEPRECHAUNISM IN A MALE INFANT.

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7.

PATTERSON JH et al. (1962) Leprechaunism in a male infant.

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8.

CLARK DR et al. (1948) Dysendocrinism.

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9.

Reddy SS et al. (1989) Molecular defects in the insulin receptor in patients with leprechaunism and in their parents.

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10.

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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11.

Reddy SS et al. (1989) Epidermal growth factor receptor defects in leprechaunism. A multiple growth factor-resistant syndrome.

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12.

Schilling EE et al. (1979) Primary defect of insulin receptors in skin fibroblasts cultured from an infant with leprechaunism and insulin resistance.

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13.

Reddy SS et al. (1988) Insulin receptor function in fibroblasts from patients with leprechaunism. Differential alterations in binding, autophosphorylation, kinase activity, and receptor-mediated internalization.

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14.

Geffner ME et al. (1987) Leprechaunism: in vitro insulin action despite genetic insulin resistance.

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15.

Cantani A et al. (1987) [A rare polydysmorphic syndrome: leprechaunism. Review of 49 cases reported in the literature].

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16.

Endo F et al. (1987) Structural analysis of normal and mutant insulin receptors in fibroblasts cultured from families with leprechaunism.

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17.

Elsas LJ et al. (1985) Leprechaunism: an inherited defect in a high-affinity insulin receptor.

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18.

Summitt RL et al. (1969) Leprechaunism (Donohue's syndrome): a case report.

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19.

Kuhlkamp F et al. (1970) [Clinical picture of congenital dysendocrinic disease or leprechaunism].

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20.

Der Kaloustian VM et al. (1971) Leprechaunism. A report of two new cases.

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21.

Dekaban A et al. (1965) Metabolic and chromosomal studies in leprechaunism.

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22.

Kaplowitz PB et al. (1982) Fibroblasts from a patient with leprechaunism are resistant to insulin, epidermal growth factor, and somatomedin C.

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23.

Rosenberg AM et al. (1980) A case of leprechaunism with severe hyperinsulinemia.

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24.

Bier DM et al. (1980) Glucose kinetics in leprechaunism: accelerated fasting due to insulin resistance.

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25.

Taylor SI et al. (1981) Qualitative abnormalities in insulin binding in a patient with extreme insulin resistance: decreased sensitivity to alterations in temperature and pH.

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26.

Psiachou H et al. (1993) Leprechaunism and homozygous nonsense mutation in the insulin receptor gene.

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