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Autosomal dominant tubulointerstitial kidney disease (ADTKD)

ADTKD is an autosomal dominant disorder which is characterized by tubulointerstitial damage, atrophy, fibrosis and a declinig glomerular fitration rate. No specific therapy is known so far.

Classification

6 types of ADTKD can be distinguished by know. The nomecalture is composed by ADTKD and the gene symbol, such as ADTKD-HNF1B, -MUC1, -UMOD, -REN, -SEC61A1, and -NOS.

Systematic

Interstitial kidney disease
Alström syndrome
Autosomal dominant tubulointerstitial kidney disease (ADTKD)
HNF1B
MUC1
REN
SEC61A1
UMOD
Bardet-Biedl syndrome
Hyperuricemic nephropathy
Karyomegalic interstitial nephritis
Medullary cystic disease complex

References:

1.

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

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2.

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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3.

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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4.

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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5.

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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6.

DUNCAN H et al. (1960) Gout, familial hypericaemia, and renal disease.

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7.

Stacey JM et al. (2003) Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13.

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8.

Fairbanks LD et al. (2002) Early treatment with allopurinol in familial juvenile hyerpuricaemic nephropathy (FJHN) ameliorates the long-term progression of renal disease.

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9.

Kamatani N et al. (2000) Localization of a gene for familial juvenile hyperuricemic nephropathy causing underexcretion-type gout to 16p12 by genome-wide linkage analysis of a large family.

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10.

McBride MB et al. (1997) Familial renal disease or familial juvenile hyperuricaemic nephropathy?

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11.

Saeki A et al. (1995) Newly discovered familial juvenile gouty nephropathy in a Japanese family.

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12.

Simmonds HA et al. (1980) Familial gout and renal failure in young women.

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13.

Massari PU et al. (1980) Familial hyperuricemia and renal disease.

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14.

Leumann EP et al. (1983) Familial nephropathy with hyperuricemia and gout.

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15.

Van Goor W et al. (1971) An unusual form of renal disease associated with gout and hypertension.

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16.

Cameron JS et al. (1990) Precocious familial gout.

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17.

Hodanová K et al. (2005) Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41.

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18.

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

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19.

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

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20.

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

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21.

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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22.

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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23.

McBride MB et al. (1998) Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children.

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24.

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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25.

OMIM.ORG article

Omim 174000 external link
Update: Aug. 14, 2020
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