What does OCRL stand for?
What does OCRL stand for?
Abstract. Oculocerebral renal syndrome of Lowe (OCRL or Lowe syndrome), a severe X-linked congenital disorder characterized by congenital cataracts and glaucoma, mental retardation and kidney dysfunction, is caused by mutations in the OCRL gene.
What is low syndrome?
Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males. Infants with Lowe syndrome are born with thick clouding of the lenses in both eyes (congenital cataracts ), often with other eye abnormalities that can impair vision.
Is Fabry an autoimmune disease?
Discussion: Fabry disease is multi-systemic and shares common symptoms with autoimmune rheumatic diseases, for example fatigue (62%) and neuropathic pain (77%).
Can Raynaud’s affect your brain?
Therefore, Raynaud’s syndrome may be one of the predictors of standard symptoms of chronic cerebral ischemia (CCI). This phenomenon is explicitly considered as a sign of blood circulation impairment while the pathogenetic mechanism of vascular arterial bed instability is completely ignored.
Is Fabry disease curable?
There is no cure for Fabry disease. Recombinant alpha-galactosidase A (alpha-Gal A), the enzyme that is deficient in patients with Fabry disease, and migalastat hydrochloride, an oral pharmacologic chaperone that facilitates trafficking of alpha-Gal A to lysosomes, are therapeutic options for eligible individuals.
What kind of doctor treats Fabry disease?
Gastroenterologist. Fabry disease can cause digestive symptoms that a specialist called a gastroenterologist can treat. For instance, you might get problems like: Belly pain.
What is Meckel-Gruber syndrome?
Meckel-Gruber syndrome is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post axial polydactyly. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births.
Does Vitamin D Help Raynaud’s?
A study on 42 people with low vitamin D blood levels (average 20.9 ng/mL) and Raynaud’s phenomenon reported that subjects receiving 600 000 IU of oral vitamin D3 per month for 2 months not only achieved higher blood levels of vitamin D than those receiving placebo (32.9 ng/mL versus 23.2 ng/mL), but also reported their …
What vitamins should I take for Raynaud’s?
Inositol hexaniacinate , a form of vitamin B3 or niacin, may reduce frequency of Raynaud’s attacks.