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Doctor insights on: Gaucher Disease In Children

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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

Dr. Sewa Legha
15 Doctors shared insights

Gaucher Disease (Definition)

A genetic disorder with enzyme deficiency. Causes fatty deposit storage in many ...Read more


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Can you tell me what is gaucher disease?

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 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 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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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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What diseases are most children. Vaccinated against?

What diseases are most children. Vaccinated against?

Vaccines: Full schedule of vaccines for the US can be found through the CDC. In brief: Children receive (not in this order): diphtheria, tetanus, pertussis, hepatitis A/B, strep pneumo, polio, hemophilus influenza type B, rotavirus, measles, mumps, rubella, varicella, meningococcus, influenza, human papilloma virus. Other vaccines available depending on travel or other circumstances. ...Read more

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What are the symptoms of rickets disease in children?

What are the symptoms of rickets disease in children?

Multiple symptoms: May include the following: leg, spine and/or hip pain, poor growth, bowed legs, protruding breast bone, muscle pain, delayed walking or refusal to walk, thickened wrists/ankles, bumps along the ribs. ...Read more

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Is Lyme disease more serious in children?

Is Lyme disease more serious in children?

Not necessarily: Lyme is a complex illness. Some who have it become quite ill, while others have mild symptoms. This depends on the strain of lyme bacteria, genetics of the patient, presence of co-infections like babesia & bartonella & factors that affect immune function like nutrition, parasites, heavy metals, mold exposure & stress.Thus, like adults, some children become quite ill but others have minimal symptoms. ...Read more

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How common is celiac disease in children?

How common is celiac disease in children?

Maybe 1% (1 in 100): Celiac disease affects about 1 in 100 people, to about 1 in 150 people. The exact numbers are not certain, but it affects a little less than 1% of the population. ...Read more

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Frequency of huntington's disease in their children?

Frequency of huntington's disease in their children?

Autosomal dominant: transmission means that each child of a parent with documented Huntington's Disease has a 50% chance of inheriting the mutant gene on Chromosome 4p16. Guidelines for predictive testing are on http://www. Hdfoundation. Org/html/hdsatest. Php. ...Read more

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Can my children get celliac disease if a parent has it?

Can my children get celliac disease if a parent has it?

Increased Risk: Incidence of celiac sprue in this country is around 1/130. The niddk has a website for more info, first degree relatives of celiac patients are at much higher risk for developing it. Http://digestive. Niddk. Nih. Gov/ddiseases/pubs/celiac/. ...Read more

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Is there a way to help children with cancer or other diseases?

Is there a way to help children with cancer or other diseases?

Many ways: Children with chronic problems need more support and love than anything. Support them by encouraging them, giving time, reading to them and helping them perform normal activities. You may also help by helping the family support such children. ...Read more