Výsledky vyhledávání - "Medullary cystic disease"

An aid to the diagnosis of genetic disorders underlying adult-onset renal failure

Publikováno v: CLINICAL NEPHROLOGY. 73(6):454-472

Several genetic disorders can present in adult patients with renal insufficiency. Genetic renal disease other than ADPKD accounts for ESRD in 3% of the adult Dutch population. Because of this low prevalence and their clinical heterogeneity most adult

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dris___01423::77faa74816be905ed0df96840809ad04
https://research.rug.nl/en/publications/61b0d05d-73d9-4729-9f70-c94c30f92572

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The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease

Autor: Antonio Amoroso, Olivier Devuyst, Francesco Scolari, Gian Marco Ghiggeri, Luca Rampoldi

Publikováno v: Kidney International; Vol 80
Kidney International

Uromodulin (Tamm–Horsfall protein) is the most abundant protein excreted in the urine under physiological conditions. It is exclusively produced in the kidney and secreted into the urine via proteolytic cleavage. Its biological function is still no

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b32292f831e63d01f65ab7bbd832790

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Identification of a New Locus for Medullary Cystic Disease, on Chromosome 16p12

Autor: Andrea Ballabio, Rosario Maiorca, Gian Marco Ghiggeri, Gianluca Caridi, Maurizio De Fusco, Francesco Scolari, Paolo Aridon, Daniela Puzzer, Giorgio Casari, Antonio Amoroso

Publikováno v: The American Journal of Human Genetics. 64:1655-1660

Summary Autosomal dominant medullary cystic disease (ADMCKD) is an interstitial nephropathy that has morphologic and clinical features similar to autosomal recessive nephronophthisis. The typical renal dysfunction associated with ADMCKD results mainl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15969089f522eb3e7092449cd4a8fa93
https://doi.org/10.1086/302414

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HLA typing of a family with nephronophthisis-medullary cystic disease complex

Autor: Noriaki Yorioka, Sayuri Okushin, Hiroaki Oda, Takashi Taguchi, Michio Yamakido, Chie Nakamura, Yukiteru Asakimori, Yoshiko Harada

Publikováno v: Clinical and Experimental Nephrology. 1:234-236

A 25-year-old man developed renal dysfunction and his family showed autosomal dominant inheritance of endstage renal disease. The proband had trace albuminuria and a slightly raised serum creatinine level. Renal biopsy showed tubulointerstitial nephr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a5d5f4f0807b89397bf99372c4e8445d
https://doi.org/10.1007/bf02480701

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Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locus

Autor: Gianluca Caridi, Antonio Amoroso, Battista Fabio Viola, Gian Marco Ghiggeri, Rosanna Gusmano, Nicola Bossini, Silvana Savoldi, Regina Tardanico, Daniela Puzzer, Valerio Vizzardi, Prati E, Giorgio Casari, Francesco Scolari, Rosario Maiorca, B. Valzorio

Publikováno v: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 13(10)

failure. The exclusion of linkage to the NPH1 locus suggests the existence of an MCD responsible locus, Background. The nephronophthisis‐medullary cystic disease (NPH/MCD) complex represents a heterogen- still to be mapped. eous group of hereditary

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https://pubmed.ncbi.nlm.nih.gov/9794556

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Autosomal dominant medullary cystic kidney disease: Evidence of gene locus heterogeneity

Autor: Fuchshuber, A., Constantinou-Deltas, Constantinos D., Berthold, S., Stavrou, Christoforos V., Vollmer, M., Burton, C., Feest, T., Krieter, D., Gal, A., Brandis, M., Pierides, Alkis M., Hildebrandt, F.

Publikováno v: Nephrology Dialysis Transplantation
Nephrol.Dial.Transplant.

Autosomal dominant medullary cystic kidney disease (ADMCKD synonym: medullary cystic disease, MCD) is an autosomal dominant kidney disorder, sharing morphological and clinical features with recessive juvenile nephronophthisis (NPH), such as reduced u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23294b631df6ca857ded4276224ae893
http://gnosis.library.ucy.ac.cy/handle/7/53076

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Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: No allelism with nephronophthisis type 1

Autor: Stavrou, Christoforos V., Pierides, Alkis M., Zouvani, Ioanna, Kyriacou, Kyriacos C., Antignac, C., Neophytou, Pavlos, Christodoulou, Kyproula, Constantinou-Deltas, Constantinos D.

Publikováno v: American Journal of Medical Genetics
Am.J.Med.Genet.

We describe a large Cypriot family with an interstitial type of nephropathy, inherited as an autosomal dominant trait that led to end stage renal failure between 51 to 78 years of age (mean 62.2 years). Twenty-three people are known to be affected, b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______4485::3cf444ccfa054a414d29197a54578a69
http://gnosis.library.ucy.ac.cy/handle/7/53404

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