Hereditäre Nierenerkrankungen des Erwachsenenalters

M. C. Braunisch; R. Günthner; R. Satanovskij; U. Heemann

doi:10.1007/s11560-017-0163-9

Hereditäre Nierenerkrankungen des Erwachsenenalters

Translated title of the contribution: Hereditary renal diseases in adulthood

M. C. Braunisch
, R. Günthner
, R. Satanovskij
, U. Heemann

Associate Professorship of Nephrology

Technical University of Munich

Research output: Contribution to journal › Review article › peer-review

Abstract

New genetic methods constantly increase the importance of genetic diagnostics in adult nephrology. Today hereditary renal diseases can be identified relatively fast. This increases not only the knowledge of these diseases but gives also implications for therapies. This article explains different diseases of adult nephrology, their genetic background as well as specific diagnostic methods. Exemplarily, autosomal dominant tubulointerstitial kidney disease (ADTKD), Gaucher disease, Fabry disease, hypophosphatsia and monogenic forms of nephrolithiasis are highlighted.

Translated title of the contribution	Hereditary renal diseases in adulthood
Original language	German
Pages (from-to)	264-270
Number of pages	7
Journal	Nephrologe
Volume	12
Issue number	4
DOIs	https://doi.org/10.1007/s11560-017-0163-9
State	Published - 1 Jul 2017

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This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

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10.1007/s11560-017-0163-9

Cite this

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title = "Heredit{\"a}re Nierenerkrankungen des Erwachsenenalters",

abstract = "New genetic methods constantly increase the importance of genetic diagnostics in adult nephrology. Today hereditary renal diseases can be identified relatively fast. This increases not only the knowledge of these diseases but gives also implications for therapies. This article explains different diseases of adult nephrology, their genetic background as well as specific diagnostic methods. Exemplarily, autosomal dominant tubulointerstitial kidney disease (ADTKD), Gaucher disease, Fabry disease, hypophosphatsia and monogenic forms of nephrolithiasis are highlighted.",

keywords = "Autosomal dominant tubulointerstitial kidney disease, Fabry disease, Gaucher disease, Hypophosphatasia, Nephrolithiasis",

author = "Braunisch, \{M. C.\} and R. G{\"u}nthner and R. Satanovskij and U. Heemann",

note = "Publisher Copyright: {\textcopyright} 2017, Springer Medizin Verlag GmbH.",

year = "2017",

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doi = "10.1007/s11560-017-0163-9",

language = "Deutsch",

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TY - JOUR

T1 - Hereditäre Nierenerkrankungen des Erwachsenenalters

AU - Braunisch, M. C.

AU - Günthner, R.

AU - Satanovskij, R.

AU - Heemann, U.

PY - 2017/7/1

Y1 - 2017/7/1

N2 - New genetic methods constantly increase the importance of genetic diagnostics in adult nephrology. Today hereditary renal diseases can be identified relatively fast. This increases not only the knowledge of these diseases but gives also implications for therapies. This article explains different diseases of adult nephrology, their genetic background as well as specific diagnostic methods. Exemplarily, autosomal dominant tubulointerstitial kidney disease (ADTKD), Gaucher disease, Fabry disease, hypophosphatsia and monogenic forms of nephrolithiasis are highlighted.

AB - New genetic methods constantly increase the importance of genetic diagnostics in adult nephrology. Today hereditary renal diseases can be identified relatively fast. This increases not only the knowledge of these diseases but gives also implications for therapies. This article explains different diseases of adult nephrology, their genetic background as well as specific diagnostic methods. Exemplarily, autosomal dominant tubulointerstitial kidney disease (ADTKD), Gaucher disease, Fabry disease, hypophosphatsia and monogenic forms of nephrolithiasis are highlighted.

KW - Autosomal dominant tubulointerstitial kidney disease

KW - Fabry disease

KW - Gaucher disease

KW - Hypophosphatasia

KW - Nephrolithiasis

UR - https://www.scopus.com/pages/publications/85019225069

U2 - 10.1007/s11560-017-0163-9

DO - 10.1007/s11560-017-0163-9

M3 - Übersichtsartikel

AN - SCOPUS:85019225069

SN - 1862-040X

VL - 12

SP - 264

EP - 270

JO - Nephrologe

JF - Nephrologe

IS - 4

ER -

Hereditäre Nierenerkrankungen des Erwachsenenalters

Abstract

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