Neonatal multicystic dysplastic kidney with mass effect: A systematic review

Pettit, Samuel; Chalmers, David J.

doi:10.1016/j.jpurol.2021.09.003

Cited by 6 publications

(1 citation statement)

References 17 publications

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“…Multicystic dysplastic kidney (MCDK) represents a type of kidney dysplasia characterized by the presence of both smaller and larger cysts from undifferentiated and immature tissue. MCDK stands out as a common cause of abdominal masses in neonates, impacting approximately 1 in every 1000 to 4000 live births [6]. MCDK is attributed to pathogenic variations in specific development genes, including TCF2 and PAX2, and mutations involv-ing uroplakins [1].…”

Section: Testing Other Family Membersmentioning

confidence: 99%

The Pathophysiology of Inherited Renal Cystic Diseases

Satariano,

Ghose,

Raina

2024

Genes

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Renal cystic diseases (RCDs) can arise from utero to early adulthood and present with a variety of symptoms including renal, hepatic, and cardiovascular manifestations. It is well known that common RCDs such as autosomal polycystic kidney disease and autosomal recessive kidney disease are linked to genes such as PKD1 and PKHD1, respectively. However, it is important to investigate the genetic pathophysiology of how these gene mutations lead to clinical symptoms and include some of the less-studied RCDs, such as autosomal dominant tubulointerstitial kidney disease, multicystic dysplastic kidney, Zellweger syndrome, calyceal diverticula, and more. We plan to take a thorough look into the genetic involvement and clinical sequalae of a number of RCDs with the goal of helping to guide diagnosis, counseling, and treatment.

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Section: Testing Other Family Membersmentioning

confidence: 99%