关键词: ADPKD ARPKD Cystic disease neonatal perinatal renal

Mesh : Adult Disease Management Female Genetic Testing / methods Humans Infant, Newborn Male Polycystic Kidney Diseases / diagnosis therapy Polycystic Kidney, Autosomal Dominant / diagnosis therapy Postnatal Care / methods Prenatal Care / methods Prenatal Diagnosis / methods Ultrasonography, Prenatal / methods

来  源:   DOI:10.3233/NPM-200520   PDF(Sci-hub)

Abstract:
Renal cystic diseases are a clinically and genetically diverse group of renal diseases that can manifest in utero, infancy, or throughout childhood and adulthood. These diseases may be unilateral or bilateral with a single cyst or multiple cysts, or with increased echogenicity of the renal cortex without macroscopic cysts. Certain cystic renal diseases are life-threatening, with many developing chronic kidney and hepatic disease if not recognized early enough. Therefore, due to the prevalence and life-altering complications of this specific group of diseases in vulnerable populations, it is crucial for clinicians and healthcare providers to have an overall understanding of cystic diseases and how to pre-emptively detect and manage these conditions. In this review, we discuss in detail the epidemiology, genetics and pathophysiology, diagnosis, presentation, and management of numerous genetic and sporadic renal cystic diseases, such as polycystic kidney disease, multicystic dysplastic kidney, and calyceal diverticula, with an emphasis on prenatal care and pregnancy counseling.
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