Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Autosomal dominante tubulointerstitielle Nierenerkrankung (ADTKD)

Die ADTKD ist eine autosomal dominante tubulointerstitielle Erkrankungen. Neben der dominanten Vererbung ist sie durch eine progressive tubulointerstitielle Schädigung gekennzeichnet. In der Folge kommt es zu Tubulusatrophie, Fibrose und einem Abfall der glomerulären Filtration. Eine Therapie ist bisher nicht bekannt.

Einteilung

Die Erkrankung wird in nunmehr 6 Typen unterteilt. Die Nomenklatur setzt sich aus ADTKD und dem Gensymbol zusammen. NOS wird für all die Formen verwendet, wo das Gen bisher nicht identifiziert werden konnte. Wir unterscheiden also derzeit ADTKD-HNF1B, -MUC1, -UMOD, -REN, -SEC61A1 und -NOS.

Gliederung

Interstitielle Nierenerkrankungen
Alström-Syndrom
Autosomal dominante tubulointerstitielle Nierenerkrankung (ADTKD)
HNF1B
MUC1
REN
SEC61A1
UMOD
Bardet-Biedl-Syndrom
Hyperuricämische Nephropathie
Karyomegale interstitielle Nephritis
Komplex medullärer Zystennierenerkrankungen

Referenzen:

1.

Stibůrková B et. al. (2003) Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.

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2.

Zivná M et. al. (2009) Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.

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3.

Stibůrková B et. al. (2000) Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity.

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4.

Hart TC et al. (2002) Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.

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5.

Turner JJ et. al. (2003) UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.

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6.

Rampoldi L et al. (2003) Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.

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7.

Vylet'al P et. al. (2006) Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.

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8.

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9.

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10.

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11.

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17.

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18.

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19.

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20.

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21.

Dahan K et. al. (2003) A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.

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22.

Zaucke F et. al. (2010) Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.

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23.

Bernascone I et. al. (2010) A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure.

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24.

Piret SE et. al. (2011) Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21.

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