Inherited renal cystic diseases

Bohyun Kim; Bernard F. King; Terri J. Vrtiska; Maria V. Irazabal; Vicente E. Torres; Peter C. Harris

doi:10.1007/s00261-016-0754-3

Inherited renal cystic diseases

Bohyun Kim, Bernard F. King, Terri J. Vrtiska, Maria V. Irazabal, Vicente E. Torres, Peter C. Harris

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

5 Scopus citations

Abstract

A number of inherited renal diseases present with renal cysts and often lead to end-stage renal disease. With recent advances in genetics, increasing number of genes and mutations have been associated with cystic renal diseases. Although genetic testing can provide a definite diagnosis, it is often reserved for equivocal cases or for ongoing investigational research. Therefore, imaging findings are essential in the routine diagnosis, follow-up, and detection of complications in patients with inherited cystic renal diseases. In this article, the most recent classification, genetic analysis, clinical presentations, and imaging findings of inherited cystic renal diseases will be discussed.

Original language	English (US)
Pages (from-to)	1035-1051
Number of pages	17
Journal	Abdominal Radiology
Volume	41
Issue number	6
DOIs	https://doi.org/10.1007/s00261-016-0754-3
State	Published - Jun 1 2016

Keywords

Cystic renal disease
Hereditary renal disease
Imaging
Polycystic kidney disease

ASJC Scopus subject areas

Radiological and Ultrasound Technology
Radiology Nuclear Medicine and imaging
Gastroenterology
Urology

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10.1007/s00261-016-0754-3

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title = "Inherited renal cystic diseases",

abstract = "A number of inherited renal diseases present with renal cysts and often lead to end-stage renal disease. With recent advances in genetics, increasing number of genes and mutations have been associated with cystic renal diseases. Although genetic testing can provide a definite diagnosis, it is often reserved for equivocal cases or for ongoing investigational research. Therefore, imaging findings are essential in the routine diagnosis, follow-up, and detection of complications in patients with inherited cystic renal diseases. In this article, the most recent classification, genetic analysis, clinical presentations, and imaging findings of inherited cystic renal diseases will be discussed.",

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AU - Kim, Bohyun

AU - King, Bernard F.

AU - Vrtiska, Terri J.

AU - Irazabal, Maria V.

AU - Torres, Vicente E.

AU - Harris, Peter C.

PY - 2016/6/1

Y1 - 2016/6/1

N2 - A number of inherited renal diseases present with renal cysts and often lead to end-stage renal disease. With recent advances in genetics, increasing number of genes and mutations have been associated with cystic renal diseases. Although genetic testing can provide a definite diagnosis, it is often reserved for equivocal cases or for ongoing investigational research. Therefore, imaging findings are essential in the routine diagnosis, follow-up, and detection of complications in patients with inherited cystic renal diseases. In this article, the most recent classification, genetic analysis, clinical presentations, and imaging findings of inherited cystic renal diseases will be discussed.

AB - A number of inherited renal diseases present with renal cysts and often lead to end-stage renal disease. With recent advances in genetics, increasing number of genes and mutations have been associated with cystic renal diseases. Although genetic testing can provide a definite diagnosis, it is often reserved for equivocal cases or for ongoing investigational research. Therefore, imaging findings are essential in the routine diagnosis, follow-up, and detection of complications in patients with inherited cystic renal diseases. In this article, the most recent classification, genetic analysis, clinical presentations, and imaging findings of inherited cystic renal diseases will be discussed.

KW - Cystic renal disease

KW - Hereditary renal disease

KW - Imaging

KW - Polycystic kidney disease

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Inherited renal cystic diseases

Abstract

Keywords

ASJC Scopus subject areas

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