Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Erbliche metabolische Nierenerkrankungen

Unter metabolischen Nierenerkrankungen wird eine breite Gruppe von Erkrankungen zusammengefasst, die durch metabolische Störungen charakterisiert ist, welche letztendlich zu renalen Symptomen führen können.

Gliederung

Erbliche Nierenerkrankungen
Angeborene Fehlbildungen des Urogenitalsystems
Erbliche metabolische Nierenerkrankungen
Hereditäre Amyloidose
ATTR-Amyloidose
TTR
Amyloidose vom Finnischen Typ
GSN
Familiäres Mittelmeerfieber
MEFV
NOD2
SAA1
TNFRSF1A
Muckle-Wells-Syndrom
NLRP3
Nierenamyloidose
APOA1
B2M
CST3
FGA
LYZ
Zerebroarterielle Amyloidose
Zerebroarterielle Amyloidose vom Britischen Typ
ITM2B
Zerebroarterielle Amyloidose vom Dänischen Typ
ITM2B
Zerebroarterielle Amyloidose vom Holländischen Typ
APP
Zerebroarterielle Amyloidose vom Isländischen Typ
CST3
Hyperoxalurie
Hyperoxalurie vom Typ 1
AGXT
Hyperoxalurie vom Typ 2
GRHPR
Hyperoxalurie vom Typ 3
HOGA1
Lysinurische Proteinintoleranz
SLC7A7
Morbus Fabry
GLA
Hereditäre Nierentumoren
Hereditäre Tubulusfunktionsstörungen der Niere
Hereditäre Urolithiasis
Hereditäre glomeruläre Nierenerkrankungen
Interstitielle Nierenerkrankungen
Nierenerkrankungen mit endokrinologischer Manifestation
Thrombotische Mikroangiopathien
Zystische Nierenerkrankungen

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