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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.[Error: Macro 'ref' doesn't exist]

Symptome

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

Gliederung

Neonataler Diabetes mellitus
Leprechaunismus
INSR
Mitchell-Riley-Syndrom
Neonataler Diabetes mellitus mit angeborener Hypothyreose
Nierenzysten und Diabetes (RCAD)
Pankreopriver Diabetes mellitus
Permanenter neonataler Diabetes mellitus
Rabson-Mendenhall-Syndrom
Transienter neonataler Diabetes mellitus 1
Transienter neonataler Diabetes mellitus 2
Transienter neonataler Diabetes mellitus 3
X-chromosomale Immundysregulation, Polyendokrinopathie und Enteropathie

Referenzen:

1.

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

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2.

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

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3.

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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4.

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

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5.

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

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6.

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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7.

None (1965) Metabolic and chromosomal studies in leprechaunism.

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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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16.

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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17.

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

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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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19.

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

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20.

CLARK DR et al. (1948) Dysendocrinism.

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21.

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

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22.

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

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23.

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

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24.

None (1955) Leprechaunism.

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25.

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

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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.

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27.

OMIM.ORG article

Omim 246200 external link
28.

Orphanet article

Orphanet ID 508 external link
29.

Wikipedia Artikel

Wikipedia DE (Leprechaunismus) external link
Update: 14. August 2020
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