Inherited renal cystic diseases

Research output: Contribution to journalArticle

5 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)1-17
Number of pages17
JournalAbdominal Radiology
DOIs
StateAccepted/In press - May 11 2016

Fingerprint

Cystic Kidney Diseases
Kidney
Genetic Testing
Chronic Kidney Failure
Cysts
Mutation
Research
Genes

Keywords

  • Cystic renal disease
  • Hereditary renal disease
  • Imaging
  • Polycystic kidney disease

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Gastroenterology
  • Urology
  • Radiological and Ultrasound Technology

Cite this

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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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author = "Bohyun Kim and King, {Bernard Francis} and Vrtiska, {Terri J} and {Irazabal Mira}, Maria and Vicente Torres and Harris, {Peter C}",
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AU - Kim, Bohyun

AU - King, Bernard Francis

AU - Vrtiska, Terri J

AU - Irazabal Mira, Maria

AU - Torres, Vicente

AU - Harris, Peter C

PY - 2016/5/11

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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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