ADPKD individuals might have a normal life; conversely, ARPKD can cause kidney dysfunction and can lead to kidney failure by the age of 40-60. ADPKD1 and ADPKD2 are very different, in that ADPKD2 is much milder.[18]
Currently, there are no therapies proven effective to prevent the progression of polycystic kidney disease (autosomal dominant).[19]
However, concomitant inactivation of polycystin 1 (PC1) and cilia have been shown to slow down cyst formation. This suggests that PC1 acts as an inhibitor to an unidentified cilia-dependent pathway responsible for cyst growth. [23]
Autosomal recessive polycystic kidney disease (ARPKD) (OMIM #263200) is the lesser common of the two types of PKD, with an incidence of 1:20,000 live births and is typically identified in the first few weeks after birth. It is characterized by enlargement of kidney collecting ducts and biliary ducts in the liver. Genetically is caused by a mutation of PKHD1 gene, which encodes protein fibrocystin (FPC). FPC functions to regulate planar cell polarity and maintaining luminal diameter of kidney tubules. Defects in this function are characteristic of ARPKD. [23] Unfortunately, the kidneys are often underdeveloped resulting in a 30% death rate in newborns with ARPKD.[10][9]
23. https://www.sciencedirect.com/science/article/pii/S1471491414000057. Accessed October 2018.
ADPKD individuals might have a normal life; conversely, ARPKD can cause kidney dysfunction and can lead to kidney failure by the age of 40-60. ADPKD1 and ADPKD2 are very different, in that ADPKD2 is much milder.[18]
Currently, there are no therapies proven effective to prevent the progression of polycystic kidney disease (autosomal dominant).[19]
However, concomitant inactivation of polycystin 1 (PC1) and cilia have been shown to slow down cyst formation. This suggests that PC1 acts as an inhibitor to an unidentified cilia-dependent pathway responsible for cyst growth. [23]
Autosomal recessive polycystic kidney disease (ARPKD) (OMIM #263200) is the lesser common of the two types of PKD, with an incidence of 1:20,000 live births and is typically identified in the first few weeks after birth. It is characterized by enlargement of kidney collecting ducts and biliary ducts in the liver. Genetically is caused by a mutation of PKHD1 gene, which encodes protein fibrocystin (FPC). FPC functions to regulate planar cell polarity and maintaining luminal diameter of kidney tubules. Defects in this function are characteristic of ARPKD. [23] Unfortunately, the kidneys are often underdeveloped resulting in a 30% death rate in newborns with ARPKD.[10][9]
23. https://www.sciencedirect.com/science/article/pii/S1471491414000057. Accessed October 2018.