Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Conn-Syndrom

Das Conn-Syndrom, der Hyperaldosteronismus, der sich im Laufe des Lebens entwickeln kann, beruht häufig auch auf somatischen Mutationen in den Nebennierenadenomen.

Einteilung

Unterschieden werden können zwei arten von durch somatische Mutationen initierter Hyperaldosteronismus. (1) Beim APCC (aldosterone-producing cell clusters) befinden sich subkapsulär Zellcluster die eine erhöhte Hormonproduktion aufweisen. Diese Nebennieren erscheinen grobmorphologisch normal. (2) Im Unterschied zu den Aldosteron produzierenden Adenomen (APA). bei beiden Formen sind unterschiedliche Gene mutiert.

Gliederung

Hyperaldosteronismus
Conn-Syndrom
ATP1A1
ATP2B3
CACNA1D
CACNA1H
CTNNB1
KCNJ5
Glycocorticoid getriggerter Hypertonus
Hyperaldosteronismus Typ 1
Hyperaldosteronismus Typ 2
Hyperaldosteronismus Typ 3
Hyperaldosteronismus Typ 4

Referenzen:

1.

Davare MA et. al. (2001) A beta2 adrenergic receptor signaling complex assembled with the Ca2+ channel Cav1.2.

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2.

Williams ME et. al. (1992) Structure and functional expression of alpha 1, alpha 2, and beta subunits of a novel human neuronal calcium channel subtype.

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3.

Seino S et. al. (1992) Cloning of the alpha 1 subunit of a voltage-dependent calcium channel expressed in pancreatic beta cells.

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4.

Seino S et. al. (1992) Assignment of the gene encoding the alpha 1 subunit of the neuroendocrine/brain-type calcium channel (CACNL1A2) to human chromosome 3, band p14.3.

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5.

Tsien RW et. al. (1991) Molecular diversity of voltage-dependent Ca2+ channels.

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6.

Chin HM et. al. (1991) A brain L-type calcium channel alpha 1 subunit gene (CCHL1A2) maps to mouse chromosome 14 and human chromosome 3.

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7.

Mori Y et. al. (1991) Primary structure and functional expression from complementary DNA of a brain calcium channel.

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8.

Jinnah HA et. al. (1999) Calcium channel activation and self-biting in mice.

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9.

Platzer J et. al. (2000) Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca2+ channels.

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10.

Pennartz CM et. al. (2002) Diurnal modulation of pacemaker potentials and calcium current in the mammalian circadian clock.

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11.

Liu X et. al. (2010) Enzyme-inhibitor-like tuning of Ca(2+) channel connectivity with calmodulin.

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12.

Baig SM et. al. (2011) Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.

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13.

Scholl UI et. al. (2013) Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.

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14.

Azizan EA et. al. (2013) Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.

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15.

Scholl UI et. al. (2012) Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.

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16.

Charmandari E et. al. (2012) A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension.

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17.

Murthy M et. al. (2014) Role for germline mutations and a rare coding single nucleotide polymorphism within the KCNJ5 potassium channel in a large cohort of sporadic cases of primary aldosteronism.

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18.

Kokunai Y et. al. (2014) A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1.

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