why choose us

300×250 Ad Slot

Research Article: Unraveling the Complexity of Childhood Polycystic Kidney Disease: A Case Study of Three Sisters

Date Published: 2023-10-17

Abstract:
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disorder, estimated to affect 1 in 1000 people. It displays a high level of variability in terms of onset and severity among affected individuals within the same family. In this case study, three sisters (4, 8, and 10 years of age) were suspected of having ADPKD due to their positive family history. While the two younger sisters aged 8 and 4 showed no disease complications and had normal kidney function, the oldest sister was found to have no dipping status on ambulatory blood pressure measurement (ABPM). Two of the sisters were discovered to have a PKD1 mutation, while the third sister aged 8 was heterozygous for TTC21B c.1593_1595del, p. (Leu532del), which is a variant of uncertain significance (VUS). Environmental factors and genetic modifying factors are believed to contribute to the phenotypic variability observed in ADPKD. Identifying and understanding potential genetic and environmental modifiers of ADPKD could pave the way to targeted treatments for childhood ADPKD.

Introduction:
Autosomal dominant polycystic kidney disease (ADPKD) represents the most prevalent genetic kidney disorder, arising from PDK1 and, less frequently, PDK2 gene mutations [1]. The genes responsible for encoding polycystin 1 and 2 constitute the calcium channel complex within the primary cilia of renal tubular epithelium. It is theorized that mutations in either the PDK1 or PDK2 gene lead to cyst formation in different organs, arising from disruptions in the structure or function of primary cilia [2]. While several…

Read more

300×250 Ad Slot