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Doctor insights on: Gauchers Disease

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How to know if you have gauchers disease?

How to know if you have gauchers disease?

Your doctor will : your 3-generation family history of Gaucher Disease to convince your insurance company to pay for a Chromosomal Microarray. Mutations of a gene on Chr. 1p22 cause all 3 Types. of GD. Adult Type I can cause fatigue, anemia, osteoporosis, bone pain, easy bruising/ bleeding & enlarged liver &/or spleen. Call the National Gaucher Foundation, 800-504-3189, for information & resources. ...Read more

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Hello docs, is gauchers disease the same as gaucers syndrome?

Hello docs, is gauchers disease the same as gaucers syndrome?

Spelling??: Gaucher's disease is the same as gaucher's syndrome. I don't know a gaucers sydnrome so I assume that is a spelling mistake. ...Read more

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Are there any new treatment options for gauchers disease?

Yes: Gaucher disease treatment used to be limited to enzyme replacement therapy (ert)with cerazyme as the only product. Since there is now a oral ert product called Miglustat as well as competing ert products vpriv (velaglucerase alfa) and elylyso. In addition, there is substrate reduction therapy (srt) agents in the pipeline that are under investigation at the moment. ...Read more

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What causes Gaucher's disease?

What causes Gaucher's disease?

Inherited: Gaucher's disease GD is an inherited / genetic metabolic disorder that causes an enzyme deficiency. This deficiency disables the process that allows for the breakdown of a class of compounds called glycolipids causing them to accumulate in abnormal concentration in various organs resulting in damage to these organs. ...Read more

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What exactly is Gaucher's disease?

What exactly is Gaucher's disease?

It is: a genetic "storage" disease , storing GLYCOGEN a "sugar -like" material in the liver causing enlargement of the organ. Hope this is helpful Dr Z ...Read more

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What are the risk factors for Gaucher's disease?

What are the risk factors for Gaucher's disease?

Gene transmission: If 1 or both parents carry mutations in the gene that code for the enzymes needed to recycle a class of compounds called glycolipids, they can transmit this mutation to their offspring in an autosomal recessive pattern; odds of transmission 1:4 if both parents are carriers and 1:2 if one of the parents are affected. Any of the geneticists in network will offer more insight. Take care. ...Read more

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Is gaucher disease rare?

Is gaucher disease rare?

Uncommon: This genetic problem occurs in about one in 50, 000 to one in 100, 000 people. There are several types. One is more common in certain ethnic groups. ...Read more

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Can you tell me what is gaucher disease?

There isn't enough -: Space here to explain it. Briefly its one of the hemapoietic disorders, due to deficiency of a specific enzyme. Seen in kids with bone pain deformities due to bones not forming normally; bleeding can occur into joints, under the skin, liver/spleen can become rather large and due to all this kids have anemia. Can affect the hips. Treatment depends on their symptoms ; enzyme replacement therapy. ...Read more

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What is the treatment for gaucher's disease?

Depends on type and: Severity. Mild cases may require no treatment, interventions include enzyme replacement and bone marrow transplantation. Check the site below: http://www.Mayoclinic.Com/health/gauchers-disease/ds00972. ...Read more

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What are the treatments for Gaucher's disease?

What are the treatments for Gaucher's disease?

Several Modalities: GD results from metabolic error caused by gene driven deficiency of the enzyme that helps recycle a class of compounds called glycolipids. Goals of treatment; symptom resolution, prevention of end organ damage resulting from abnormal accumulation of glycolipids in these organs by enzyme replacement , decreasing production of glycolipids and treating symptoms; Objective, improve quality of life. ...Read more

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What are the treatment options for Gaucher's disease?

See: http://www.mayoclinic.org/diseases-conditions/gauchers-disease/basics/treatment/con-20031396

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What is the definition or description of: gaucher disease?

Inherited metabolic : Genetic disorder with enzyme deficiency. Causes fatty deposit storage in many tissues associated with pain. ...Read more

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Can you please tell me about gaucher disease in a really easy definition?

Cell problem : An enzyme deficiency (genetic) that results in accumulation of toxic material in certain cells. ...Read more

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What occurs to people with gaucher disease type 2 that don't get treated?

Not good: "gaucher disease has the earliest onset, within the first 3 to 6 months of life and it is fatal; causing death before 2 years of age. Due to the shortened lifespan, babies with type 2 will not survive long enough to develop some symptoms experienced by individuals with type 1 and type 3." not sure treatment will help...This is very sad. http://www.gaucherdisease.org/gaucher-disease-type2-type3.php. ...Read more

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What happens if a parent has gaucher's disease type 1, does the child get gaucher's disease type 1 or type 2?

What happens if a parent has gaucher's disease type 1, does the child get gaucher's disease type 1 or type 2?

? other parent: GD is an autosomal recessive disease. So if parent # 1 has it, he has two copies of the gene to have the disease. If parent #2 doesn't carry the gene, then the most the child can be is a carrier. If parent #2 is a carrier, then there is a 25% chance that the child will have GD , and a 50% chance of being a carrier. A genetics specialist is the best one to confirm all of this. It's been a while ...Read more

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Can you tell me if a parent has gaucher's disease type 1, does the child get gaucher's disease type 1 or type 2?

Can you tell me if a parent has gaucher's disease type 1, does the child get gaucher's disease type 1 or type 2?

Gaucher's Disease: Hello Flopster555ii. The inheritance pattern of Gaucher's Disease is autosomal recessive which means it takes both parents to carry the affected gene to pass the condition to their child. Because the inheritance pattern is not always clear cut, I recommend pre-conception Genetic counseling for you and your partner. For future consults, my link is healthtap.com/vanessanealmd at code PNYTKV. ...Read more

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What are the tests for gaucher's disease?

Gaucher's Dz: Enzyme analysis. Using a blood test or genetic mutation analysis, also a blood test. ...Read more

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What are the symptoms of gaucher's disease?

What are the symptoms of gaucher's disease?

Depends on type.: Depending on which type of gaucher's, symptoms can range from painless enlarged spleen or liver, anemia, easy bruising, nosebleeds, chronic fatigue, bone pain, or easily broken bones, to increased muscle tone, seizures, 'lazy eye', failure to thrive, swallowing abnormalities, stridor, developmental delay, or death. ...Read more

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Could you explain what is gaucher's disease?

Could you explain what is gaucher's disease?

Gaucher Disease: Gaucher Disease is an inherited disorder that results in a missing enzyme, allowing fat to deposit in various parts of the body. Commonly affected areas include the brain, liver, spleen, and bone marrow. There are 3 types, each with varying degrees of impairment. Although not curable, symptoms can be minimized in certain patients with enzyme replacement therapy. ...Read more

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What are the complications of Gaucher's disease?

What are the complications of Gaucher's disease?

Organ damage: GD is treatable if diagnosed early and enzyme replacement started. Specific enzyme deficiency cause organs damage due to abnormal accumulation of unrecycled compounds called glycolipids. The spleen, liver, bones, bone marrow, skin, lungs and growth/dev , and in some subclass of GD, the CNS are affected. Increased risk of malignancy. Manifestations and severity vary. Consult with a geneticist pls. ...Read more

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Are there tests to confirm the doctor's diagnosis of gaucher's disease?

Are there tests to confirm the doctor's diagnosis of gaucher's disease?

Gaucher's disease: Gaucher's is a genetic disease affecting the way in which glucosylceramide is metabolized. There are 3 forms of the disease: type i is adult or chronic; type ii is infantile, and type iii is juvenile form. Type i is seen in the ashkenazi jewish population. Type ii is a fulminant disease appearing in infancy. Type iii is only seen in swedish populations. There is genetic testing for the disease. ...Read more

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Will enzyme therapy only work on the short term or can it cure gaucher's disease?

Will enzyme therapy only work on the short term or can it cure gaucher's disease?

No: Enzyme therapy is a treatment, not a cure. It will maintain good health but you must always take it to remain healthy. ...Read more

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What is the definition or description of: Gaucher's disease?

What is the definition or description of: Gaucher's disease?

Gaucher's disease: Gaucher's disease = causes enlargement of organs such as spleen & liver due to accumulation of fatty substances in those organs. ...Read more

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What is effective therapy for gaucher disease?

Adults & children : with GD Type 1 may have symptom reduction or reversal from Enzyme Replacement Therapy. Different ERT's are approved for kids & adults. Substrate Reduction Therapy is given to adults with mild Type 1 who can't take ERT. No treatment can reverse brain damage in patients with Type 2 or Type 3. Mutations of a gene on Chr. 1p22 cause all 3 Types. Call the National Gaucher Foundation, 800-504-3189. ...Read more

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Can a fetus be genetically tested for gaucher disease?

Yes, if both parents: are carriers of 1 or more mutations that cause the different types of Gaucher Disease (GD) or, less commonly, if mom has GD, Chorionic Villous Sampling or Amniocentesis for DNA mutations & enzyme analysis for GD is warranted. It is important to know the parents' specific mutation(s), preferably before conception, to guide both prenatal testing & testing of all family members for carrier status. ...Read more

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Can you tell me things to keep in mind about gaucher disease?

Can you tell me things to keep in mind about gaucher disease?

Get in touch with a: Pediatric orthopedist who deals with these problems. Treatment is generally supportive, depending on the symptoms. The enzyme that is deficient in the body of these kids, its replacement therapy is available. Get the kid regularly checked. ...Read more

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Can you tell me how can gaucher's disease affect the person who has it?

Variable presentatio: See: http://www.gaucherdisease.org/what-is-gaucher-disease.php?gclid=COKmgrX6zMgCFYlafgodMuwJwg

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Is gaucher's disease a metabolic or genetic disorder?

Is gaucher's disease a metabolic or genetic disorder?

Both: Gaucher disease is passed as an autosomal recessive genetic defect. It involves improper coding for an enzyme that would otherwise process and remove excess buildup of glycolipids from a variety of cells in the body. ...Read more

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My girl baby is 2 yrs old.She is suffering from gaucher disease (type -1), what to do?

Gaucher Disease: Gaucher Disease is a genetic disorder. Type I is the most common and symptoms can be minimized with enzyme replacement therapy. Your child should have a solid medical team consisting of at least of a general pediatrician and a genetics consultant. ...Read more

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What to do if my girl baby is 2 yrs old.she is suffering from gaucher disease (type -1)i want to know about?

Metabolic Specialist: There are many excellent internet resources, including the National Gaucher Foundation (www.gaucherdisease.org) and the NIH'sG enetics Home Reference (ghr.nlm.nih.gov/condition/gaucher-disease). Ask your doctor for a referral to a metabolic or genetic specialist for further care. ...Read more

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I have gaucher disease and have developed pneumonia. I have used two different antibiotics, Z-pack and Augmentin (amoxicillin and clavulanate) 875 and A medrol pack and No help.

I have gaucher disease and have developed pneumonia. I have used two different antibiotics, Z-pack and Augmentin (amoxicillin and clavulanate) 875 and A medrol pack and No help.

Mgt/Workup: There may be multiple causes of your pneumonia. If your pneumonia is viral, then the antibiotics will not treat your pneumonia. If you are producing sputum or having nasal drainage, this can be sent for cultures, to better guide the therapy. A virtual consult: healthtap.com/DosanjhMD Code: NCYHPZ ...Read more

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What is HLH disease?

What is HLH disease?

Rare genetic disease: HLH is a rare genetic disease that can be fatal due to severe inflammation. See https://en.wikipedia.org/wiki/Hemophagocytic_lymphohistiocytosis ...Read more

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What pick's disease?

What pick's disease?

Nuerodegeerative des: Pick's disease is a rare neurodegenerative disease that causes progressive destruction of nerve cells in the brain. Symptoms include loss of speech (aphasia) and dementia. While some of the symptoms can initially be alleviated, the disease progresses and patients often die within two to ten years. ...Read more

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What is slims disease?

What is slims disease?

HIV: Slims disease is the old term for HIV ( human immunodeficiency) wasting syndrome or aids. ...Read more

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What is severs disease?

What is severs disease?

Sever's disease : Or calcaneal apophysitis is the most common cause of heel pain in the growing athlete and is due to overuse and repetitive microtrauma of growth plates of the calcaneus bone in the heel. It occurs in children ages 7 to 15, with the majority of patients presenting between 10 and 14 years of age. ...Read more

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What is buchet disease?

What is buchet disease?

Behcet's disease?: Behçet's disease is an inflammation of arteries (vasculitis) that often presents with mucous membrane ulcers and eye problems. As a systemic disease, it can also involve organs such as the gastrointestinal tract, pulmonary, musculoskeletal, cardiovascular and neurological systems. ...Read more

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What is bichet disease?

Bechet's disease: Is an autoimmune process associated with ulceration throughout the gastrointestinal tract. ...Read more