March is National Kidney Month
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March is National Kidney Month and with kidney disease in the top 10 for leading causes of death in the US, Kidney Month is about awareness of kidney disease and risk factors for disease. Our Kidney disease expert, Dr. Wuyan Chen, will be discussing our Kidney disease testing menu as well as some interesting cases, in his upcoming webinar on March 29th. Register for the webinar here.
There are many types of hereditary renal diseases, including: Polycystic Kidney Disease (PKD) and Nephronophthisis. Early diagnosis for any type of kidney disease is important for establishing maintenance and treatment plans.
Polycystic Kidney Disease
PKD is inherited in either an autosomal dominant (AD) or autosomal recessive (AR) manner; both are characterized by renal cysts and end-stage renal disease. ADPKD is a common inherited kidney disease occurring in 1/400 to 1/1000 people worldwide. In addition to renal symptoms, patients with ADPKD also have cysts in the liver and pancreas as well as vascular and cardiac abnormalities. Patients with ADPKD typically have onset of symptoms in adulthood (Cornec-Le Gall et al. 2013). In some rare cases, however, patients with two causative PKD1 pathogenic variants in trans may have clinical features similar to patients with autosomal recessive polycystic kidney disease (Rossetti et al. 2009; Vujic et al. 2010). ARPKD is generally diagnosed pre- or neonatally, with some cases diagnosed in childhood or even adult life. The severity of ARPKD varies widely, with the most severe cases being neonatal-lethal.
Nephronophthisis (NPH) is the most common genetic cause of progressive renal failure in children and young adults. NPH is characterized by polyuria, growth retardation and progressive deterioration of renal function with normal or slightly reduced kidney size (Hildebrandt et al. 1997; Hildebrandt et al. 2009). Nephronophthisis, when associated with Leber Congenital Amaurosis, is known as Senior-Loken syndrome (SLS) (Otto et al. 2005; Hildebrandt et al. 2009). NPH clinical features overlap with a group of diseases known as ciliopathies, which includes Meckel-Gruber Syndrome, Joubert Syndrome, Bardet-Biedl Syndrome and Leber Congenital Amaurosis.
There are also hereditary types of kidney stones (Nephrolithiasis) and renal cancer. It is estimated that 10-15% of adults are affected by Nephrolithiasis. Of these, up to 16.8% may have a genetic cause (Braun et al. 2016). Approximately 3% of renal cell carcinomas (RCC) are considered familial (Maher 2011).
At PreventionGenetics, we test for these and many other types of hereditary kidney disease including the tests listed below. Additionally, our PGxome Custom Panels option allows you to create any panel or combination of panels that do not already exist on our test menu.
Save the date for our webinar on March 29th, and Put us to the Test!
Braun D.A. et al. 2016. Clinical Journal of the American Society of Nephrology. 11: 664-72. PubMed ID: 26787776
Hildebrandt F. et al. 1997. Nature Genetics. 17: 149-53. PubMed ID: 9326933
Hildebrandt F. et al. 2009. Journal of the American Society of Nephrology : Jasn. 20: 23-35. PubMed ID: 19118152
Maher ER. 2011. Nephron. Experimental Nephrology. 118: e21-6. PubMed ID: 21071978
Otto E.A. et al. 2005. Nature Genetics. 37: 282-8. PubMed ID: 15723066
Rossetti S. et al. 2009. Kidney International. 75: 848-55. PubMed ID: 19165178
Vujic M. et al. 2010. Journal of the American Society of Nephrology : Jasn. 21: 1097-102. PubMed ID: 20558538