{"product_id":"2940154415184","title":"Lowe Syndrome (Oculocerebrorenal syndrome) A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions","description":"\u003cp\u003eLowe syndrome (oculocerebrorenal syndrome) is characterized by:\u003cbr\u003e1. Vision disorders such as clouding of the lenses of the eyes (cataracts) that are present at birth,\u003cbr\u003e2. Kidney disorders that normally develop in the first year of life, and\u003cbr\u003e3. Brain abnormalities that are linked with intellectual disabilities.\u003cbr\u003eLowe syndrome is inherited as an X-linked genetic disorder.\u003cbr\u003eLowe syndrome is a rare genetic disorder that happens almost specially in males.\u003cbr\u003eThe frequency is evaluated to be between 1 and 10 males per 1,000,000 people.\u003cbr\u003eIt has been identified in most cultures around the world and seems to have the same frequency in all populations.\u003cbr\u003eBecause Lowe Syndrome is an X-linked syndrome, the majority of affected persons are males.\u003cbr\u003eThere have been a few cases of females diagnosed with Lowe Syndrome.\u003cbr\u003eIn these cases, the female typically has one inactive X-chromosome and the active X-chromosome has the mutation for Lowe Syndrome.\u003cbr\u003eLowe syndrome (the oculocerebrorenal syndrome OCR) is a multiple system disorder that is typically featured by anomalies involving the eye, the nervous system and the kidney.\u003cbr\u003eIt is an infrequent, pan-ethnic, X-linked disease.\u003cbr\u003eBilateral cataract and severe hypo-tonia are present at birth.\u003cbr\u003eIn the later weeks or months of the infant, a proximal renal tubulopathy (Fanconi-type) is apparent and the ocular feature may be complicated by glaucoma and cheloids.\u003cbr\u003ePsychomotor retardation is evident in childhood, while behavioral disorders are present and renal complications occur in adolescence.\u003cbr\u003eThe mutation of the gene OCRL1 localized at Xq26.1 is accountable for the disease\u003cbr\u003ePhosphatidylinositol 4,5-bisphosphate 5-phosphatase INP51 controls the enzyme phosphatidylinositol (4,5) bisphosphate 5 phosphatase, PtdIns (4,5)P2, in the trans-Golgi network\u003cbr\u003eBoth enzymatic and molecular testing is available for confirmation of the diagnosis and for prenatal detection of the disease.\u003cbr\u003eLife span seldom exceeds 40 years.\u003cbr\u003eMothers may be carriers with\u003cbr\u003e1. 25% possibility of having an affected boy,\u003cbr\u003e2. 25% possibility of having a carrier daughter,\u003cbr\u003e3. 25% possibility of having an unaffected boy,\u003cbr\u003e4. 25% possibility of having a non-carrier girl.\u003cbr\u003eFemale carriers of Lowe syndrome may be diagnosed in 94% of patients by slit-lamp examination because of the presence of considerably punctuate white to grey opacities, issued in a radial fashion in all layers of the lenticular cortex.\u003cbr\u003eUsing flanking linked markers, DNA analysis can show the same molecular defect (in a heterozygous state) as that previously recognized in the patient.\u003cbr\u003eBoys with Lowe syndrome have cataracts that are present at birth in each eye\u003cbr\u003eAbout half of eyes will form high pressure in the eye (glaucoma) that can injure the optic nerve\u003cbr\u003eInfants with Lowe syndrome have poor muscle tone (hypo-tonia) at birth.\u003cbr\u003eThe kidney disorders linked with Lowe syndrome is called proximal tubular dysfunction of the Fanconi type.\u003cbr\u003eThere is no cure for Lowe Syndrome, but many of the symptoms can be treated successfully by:\u003cbr\u003e1. Medicines,\u003cbr\u003e2. Surgery,\u003cbr\u003e3. Physical and occupational treatments,\u003cbr\u003e4. Vision therapy,\u003cbr\u003eThe treatments are:\u003c\/p\u003e\u003cp\u003e1. Cataract extraction,\u003cbr\u003e2. Glaucoma control,\u003cbr\u003e3. Physical and speech therapy,\u003cbr\u003e4. Use of drugs to address behavioral problems, and\u003cbr\u003e5. Correction of the tubular acidosis\u003cbr\u003eSeizure disorders are treated with anticonvulsant medications.\u003c\/p\u003e\u003cp\u003eBehavior disorders are treated with behavior modification and medications.\u003cbr\u003eEarly intervention programs are advised and should start in early infancy:\u003cbr\u003e1. Physical therapy,\u003cbr\u003e2. Occupational therapy,\u003cbr\u003e3. Speech and language therapy,\u003cbr\u003e4. Special education services\u003cbr\u003e5. Services for visually impaired.\u003cbr\u003eThe longest reported survival is that of a 54 year-old patient.\u003c\/p\u003e\u003cp\u003eTABLE OF CONTENT\u003cbr\u003eIntroduction\u003cbr\u003eChapter 1 Lowe Syndrome\u003cbr\u003eChapter 2 Causes\u003cbr\u003eChapter 3 Symptoms\u003cbr\u003eChapter 4 Diagnosis\u003cbr\u003eChapter 5 Treatment\u003cbr\u003eChapter 6 Prognosis\u003cbr\u003eChapter 7 Cataract\u003cbr\u003eChapter 8 Renal Failure\u003cbr\u003eEpilogue\u003c\/p\u003e","brand":"Kenneth Kee","offers":[{"title":"Default Title","offer_id":47082933223664,"sku":"2940154415184","price":2.99,"currency_code":"USD","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0737\/7593\/9824\/files\/2940154415184_p0.jpg?v=1764111717","url":"https:\/\/shop-qa.barnesandnoble.com\/products\/2940154415184","provider":"Barnes \u0026 Noble (DEV)","version":"1.0","type":"link"}