Senior-Loken SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Senior-Loken Syndrome
Senior-Løken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis.
Senior-Løken syndrome can be caused by mutations in one of at least five genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells; they are involved in signaling pathways that transmit information between cells. Cilia are important for the structure and function of many types of cells, including certain cells in the kidneys. They are also necessary for the perception of sensory input (such as vision, hearing, and smell).
Senior-Løken syndrome is a rare disorder, with an estimated prevalence of about 1 in 1 million people worldwide. Only a few families with the condition have been described in the medical literature.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
BHMA Nephrology- Abingdon
Maung Kyi is a Nephrologist practicing medicine in Abingdon, Virginia. Dr. Kyi is rated as an Experienced provider by MediFind in the treatment of Senior-Loken Syndrome. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Chronic Kidney Disease, Acute Kidney Failure, Renovascular Hypertension, and Nephrosclerosis. Dr. Kyi is board certified in American Board Of Internal Medicine.
FirstChoice Internal Medicine
Amy Proffitt is a primary care provider, practicing in Internal Medicine in Johnson City, Tennessee. Dr. Proffitt is rated as an Experienced provider by MediFind in the treatment of Senior-Loken Syndrome. She is also highly rated in 22 other conditions, according to our data. Her clinical expertise encompasses Infant Hyperglycemia, Sitosterolemia, Multiple Carboxylase Deficiency, and Folate Deficiency. Dr. Proffitt is board certified in American Board Of Internal Medicine.
Valley Kidney Specialists, PC
Gregory Varghese is an Internal Medicine specialist and a Nephrologist practicing medicine in Allentown, Pennsylvania. Dr. Varghese is rated as an Experienced provider by MediFind in the treatment of Senior-Loken Syndrome. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Acute Kidney Failure, Nephrosclerosis, Renovascular Hypertension, and Necrosis. Dr. Varghese is board certified in American Board Of Internal Medicine.
Published Date: June 01, 2012
Published By: National Institutes of Health