Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Rabson-Mendenhall-Syndrom

Das Rabson-Mendenhall-Syndrom ist eine autosomal rezessive Erkrankung, die auf einer loss-of-function Mutation des Insulinrezeptors beruht. Dies führt zu einem insulinresistenten Diabetes mellitus, der von Hyperinsulinämie und vielen körperlichen Deformitäten begleitet ist. Das Syndrom weist viele Ähnlichkeiten zu dem wenig früher publizierten Donohue-Syndrom auf.

Geschichtliches

Diese Erkrankung wurde zuerst von Rabson und Mendenhall im Jahr 1956 beschrieben. Sie fanden eine Familie mit 3 betroffenen Kindern, welche aufgrund des insulinresitenten Diabetes letztlich an einer Ketoazidose verstarben.[1]

Gliederung

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

Referenzen:

1.

RABSON SM et al. (1956) Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases.

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2.

Kadowaki T et al. (1990) Substitution of lysine for asparagine at position 15 in the alpha-subunit of the human insulin receptor. A mutation that impairs transport of receptors to the cell surface and decreases the affinity of insulin binding.

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3.

Accili D et al. (1989) A mutation in the insulin receptor gene that impairs transport of the receptor to the plasma membrane and causes insulin-resistant diabetes.

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4.

Moncada VY et al. (1986) Insulin-receptor biosynthesis in cultured lymphocytes from an insulin-resistant patient (Rabson-Mendenhall syndrome). Evidence for defect before insertion of receptor into plasma membrane.

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5.

Barnes ND et al. (1974) Insulin resistance, skin changes, and virilization: a recessively inherited syndrome possibly due to pineal gland dysfunction.

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6.

Taylor SI et al. (1983) Decreased insulin binding to cultured cells from a patient with the Rabson-Mendenhall syndrome: dichotomy between studies with cultured lymphocytes and cultured fibroblasts.

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7.

West RJ et al. (1975) Familial insulin-resistant diabetes, multiple somatic anomalies, and pineal hyperplasia.

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8.

Puig-Domingo M et al. (1992) Brief report: melatonin-related hypogonadotropic hypogonadism.

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9.

Cochran E et al. (2004) Efficacy of recombinant methionyl human leptin therapy for the extreme insulin resistance of the Rabson-Mendenhall syndrome.

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10.

de Leiva A et al. (1990) Episodic nyctohemeral secretion of melatonin in adult humans: lack of relation with LH pulsatile pattern.

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11.

Takata Y et al. (1986) A primary defect in insulin receptor in a young male patient with insulin resistance.

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12.

Rittey CD et al. (1988) Melatonin state in Mendenhall's syndrome.

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13.

West RJ et al. (1980) Familial insulin resistance with pineal hyperplasia: metabolic studies and effect of hypophysectomy.

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14.

Lewy AJ et al. (1980) Light suppresses melatonin secretion in humans.

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