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
. 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.
Valley Kidney Specialists, PC
. 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.
Northwell Health Physician Partners Smith Institute For Urology At Lake Success
David M. Hoenig, MD, is a specialist in kidney stone treatment and minimally invasive surgery, including laparoscopic surgery. His specific clinical interests include all phases of kidney stone disease, from surgical treatment, to medical management, and to prevention. Dr. Hoenig completed medical school at the University of Rochester (Rochester, NY), and residency in Urology at Brown University (Providence, RI). He went on to one of the premier Laparoscopy and Endourology Fellowships in the country, under Dr. Ralph V. Clayman, one of the pioneers of minimally invasive urologic surgery, at Washington University (St. Louis, MO).After Fellowship training, Dr. Hoenig became a Clinical Instructor at the Medical College of Pennsylvania/Hahnemann under the auspices of Allegheny University, and was then recruited to Montefiore Medical Center/Albert Einstein College of Medicine to become the Director of Laparoscopy and Endourology and promoted to Assistant Professor. While at Montefiore, Dr. Hoenig assumed many administrative roles, as co-founder and co-Director of the Robotic, Laparoscopy, and Endourology Fellowship, Residency Program Director, and Practice Manager. After more than 14 years at Montefiore/Albert Einstein, he was recruited to North Shore- Long Island Jewish Hospital in 2013 with a promotion to Professor, and a shift of administrative roles to Chief of Urology Service at LIJ Hospital Campus. Dr. Hoenig's research interests are in all phases of minimally invasive urologic surgery, with particular attention to kidney stone disease, and both ablative and reconstructive minimally invasive renal surgery. His most recent publications explore the association of obesity with urological diseases, with new associations discovered between types of obesity and certain kidney stones. This research focus is a priority, given the national trend of increasing obesity, and will lead to exciting basic science exploration of these conditions.As a clinician, Dr. Hoenig's priority is treating patients with respect and empathy. He believes strongly in educating patients about their conditions, so as to equip them with the necessary information to make them a partner in their health care. Dr. Hoenig is rated as a Distinguished provider by MediFind in the treatment of Senior-Loken Syndrome. He is also highly rated in 31 other conditions, according to our data. His clinical expertise encompasses Kidney Stones, Medullary Sponge Kidney, Perirenal Abscess, Ureteroscopy, and Endoscopy. Dr. Hoenig is board certified in American Board Of Urology.
Published Date: June 01, 2012
Published By: National Institutes of Health