Choroba gauchera
Zapobieganie i profilaktyka
Choroba Gauchera, dziedziczona autosomalnie recesywnie, występuje we wszystkich grupach etnicznych, z wyższą częstością u osób pochodzenia żydowskiego aszkenazyjskiego. Profilaktyka opiera się głównie na poradnictwie genetycznym i badaniach przesiewowych, szczególnie u populacji wysokiego ryzyka, takich jak osoby aszkenazyjskie czy pary planujące potomstwo, gdzie badania prenatalne umożliwiają wczesną diagnozę i przygotowanie do opieki. W krajach o wysokim wskaźniku małżeństw konsanguinicznych, np. w Egipcie, stosuje się ukierunkowane badania przesiewowe na najczęstsze mutacje (L444P, N370S). Wczesne wykrycie choroby, zwłaszcza u noworodków, pozwala na wdrożenie leczenia zapobiegającego powikłaniom, takim jak deformacje szkieletowe czy uszkodzenia narządów.
Profilaktyka choroby Gauchera
Choroba Gauchera jest dziedziczona w sposób autosomalny recesywny i występuje we wszystkich grupach etnicznych, jednak z wyższą częstością u osób pochodzenia żydowskiego aszkenazyjskiego. Nie istnieje sposób zapobiegania chorobie Gauchera u osoby, która już odziedziczyła mutację genetyczną, jednak istnieją metody zapobiegawcze, które można zastosować w kontekście planowania rodziny oraz wczesnego leczenia w celu zapobiegania powikłaniom.123
Poradnictwo genetyczne
Poradnictwo genetyczne jest zalecane wszystkim rodzinom, w których występuje choroba Gauchera. Jest to najskuteczniejsza metoda zmniejszenia częstości występowania tej choroby.45 Genetyczne badania przesiewowe są szczególnie zalecane w następujących przypadkach:
- Osobom pochodzenia żydowskiego aszkenazyjskiego (z Europy Środkowej lub Wschodniej)67
- Osobom, których partner ma pochodzenie aszkenazyjskie8
- Osobom z chorobą Gauchera w wywiadzie rodzinnym910
- Parom planującym założenie rodziny, gdy jedno z partnerów jest nosicielem genu11
Badania genetyczne mogą określić, czy oboje rodzice są nosicielami zmutowanego genu i mogą przekazać chorobę Gauchera potomstwu. Doradca genetyczny może dostarczyć szczegółowych informacji oraz pomóc w opracowaniu planu zmniejszającego ryzyko przekazania genu.1213
Diagnostyka prenatalna
Badania prenatalne mogą określić, czy płód jest dotknięty chorobą Gauchera. W niektórych przypadkach lekarze zalecają takie badania, gdy istnieje podwyższone ryzyko wystąpienia choroby.141516 Jest to istotny element profilaktyki, który pozwala rodzicom na przygotowanie się do opieki nad dzieckiem z chorobą Gauchera lub rozważenie innych opcji.
Programy badań przesiewowych
W niektórych krajach wprowadzono programy badań przesiewowych dla nosicieli, szczególnie w populacjach wysokiego ryzyka. Na przykład w Egipcie zaleca się program badań przesiewowych ukierunkowany na najczęstsze warianty patogenne wśród populacji egipskiej (L444P i N370S), co jest szczególnie ważne z uwagi na wysoki współczynnik małżeństw między osobami spokrewnionymi (29-39% w różnych badaniach).17
Badania przesiewowe noworodków są również istotne, ponieważ wczesna identyfikacja i leczenie często pozwalają dzieciom z chorobą Gauchera typu 1, 3 i formą sercowo-naczyniową na prowadzenie zdrowszego życia z mniejszą liczbą powikłań.18
Wczesne leczenie jako element profilaktyki powikłań
Chociaż nie istnieje lekarstwo na chorobę Gauchera, wczesne rozpoczęcie leczenia może zapobiec nieodwracalnym uszkodzeniom i poprawić jakość życia pacjentów.1920
Enzymatyczna terapia zastępcza (ERT)
Enzymatyczna terapia zastępcza, jeśli rozpoczęta we wczesnym okresie życia, może zapobiec deformacjom szkieletowym i umożliwić prawidłowy rozwój szkieletu oraz wzrost, a także zmniejszyć częstość występowania przełomów kostnych i złamań.2122 Jest to kluczowy element profilaktyki powikłań choroby Gauchera.
Zaleca się, aby osoby z niektórymi postaciami choroby Gauchera rozpoczęły ERT tak szybko, jak to możliwe, nawet jeśli objawy jeszcze się nie pojawiły, aby zmniejszyć przyszłe ryzyko powikłań związanych z powiększeniem wątroby i śledziony oraz poprawić ogólny stan kości.23
Prenatalna enzymatyczna terapia zastępcza
Innowacyjnym podejściem w profilaktyce powikłań choroby Gauchera jest prenatalna enzymatyczna terapia zastępcza. UCSF prowadzi zatwierdzone przez FDA badanie kliniczne w celu leczenia płodów z chorobą Gauchera typu 2 i 3 przed urodzeniem. Leczenie przed urodzeniem może poprawić wyniki i wskaźniki przeżycia.24
Podawanie ERT przed urodzeniem może zapobiec lub zmniejszyć uszkodzenia, które rozpoczynają się w czasie ciąży. Układ odpornościowy przed urodzeniem jest mniej skłonny do wytwarzania przeciwciał przeciwko enzymowi, co może prowadzić do tolerancji długoterminowej. Ponadto leczenie prenatalne może umożliwić dotarcie enzymu do mózgu płodu.25
Terapia doustna
Dr Mistry przeprowadził międzynarodowe badanie kliniczne testujące tabletkę, która spowalnia proces choroby Gauchera, zastępując tradycyjne wlewy podawane co dwa tygodnie. Dalsze badania wykazały, że tabletka ta nie tylko leczy objawy choroby Gauchera, ale także zmniejsza stany przednowotworowe związane ze szpiczakiem mnogim, co może zapobiegać rozwojowi szpiczaka mnogiego u przyszłych pokoleń pacjentów z chorobą Gauchera.26
Leczenie długookresowe
Długotrwała, wysokodawkowa ERT (60 U/kg co 2 tygodnie) może być wymagana do uzyskania wystarczającej poprawy i utrzymania zdrowia u pediatrycznych pacjentów z ciężką chorobą Gauchera. W przypadku japońskiego pacjenta pediatrycznego z chorobą Gauchera typu 1, pomimo wysokiego stopnia ciężkości choroby, zaobserwowano znaczną poprawę po ERT prowadzonej przez 10 lat.27
Wczesne rozpoczęcie ERT może również przyczynić się do zapobiegania objawom neurologicznym. U japońskiego pacjenta pediatrycznego, u którego zdiagnozowano chorobę Gauchera typu 1 w wieku 2 lat, po 6 miesiącach od rozpoczęcia ERT wątroba i śledziona uległy znacznemu zmniejszeniu, a po roku normalizacji. Poziom hemoglobiny i liczba płytek krwi stopniowo się poprawiały i znormalizowały po 2 latach.2829
Zalecenia żywieniowe i suplementacja
Zarówno dzieci, jak i dorośli z chorobą Gauchera powinni stosować zdrową dietę bogatą w witaminę D i wapń, aby utrzymać silne kości, oraz regularnie ćwiczyć.30
Suplementy witaminy D, wapnia lub inne mogą również pomóc złagodzić objawy choroby Gauchera. Lekarz może zalecić ich stosowanie, jeśli uzna, że pacjent nie otrzymuje wystarczającej ilości tych składników w diecie.31
Regularne monitorowanie
Lekarz prawdopodobnie zaleci rutynowe monitorowanie w celu obserwacji postępu choroby i powikłań. Częstotliwość monitorowania będzie zależała od indywidualnej sytuacji pacjenta.32
Badanie rodzeństwa osoby z chorobą Gauchera może pomóc we wczesnym wykryciu choroby, co może ułatwić leczenie i zapobiec powikłaniom.3334
Zapobieganie powikłaniom długoterminowym
Choroba Gauchera typu 1 (GD1) może pogłębiać się z czasem, a uszkodzenia spowodowane przez GD1 mogą być nieodwracalne. Leczenie może pomóc złagodzić niektóre objawy i zapobiec pewnym długoterminowym powikłaniom.35
Celem leczenia jest zmniejszenie lub zapobieganie gromadzeniu się GL-1 (glukozyloceramidu), co w dłuższej perspektywie może zapobiec określonym powikłaniom.36
Dzieci, które otrzymują wczesne i ciągłe leczenie choroby Gauchera, mogą żyć dłużej i osiągać lepszy wzrost, co stanowi kluczowy aspekt profilaktyki długoterminowej.37
Kolejne rozdziały
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Materiały źródłowe
- #1 Gaucher Disease: Symptoms, Causes & Treatmenthttps://my.clevelandclinic.org/health/diseases/16234-gaucher-disease
Theres no way to prevent Gaucher disease if you have the genetic mutation. […] Its wise to have testing if youre at risk. Early treatment may prevent damage to bones and organs from Gaucher disease type 1. […] If a DNA test shows that youre a Gaucher carrier, and youre planning on starting a family, talk to your healthcare provider. A genetic counselor can give you more information and help you make a plan to decrease the chance of passing on the gene.
- #2 What Is Gaucher Disease? Symptoms, Causes, Diagnosis, Treatment, and Preventionhttps://www.everydayhealth.com/genetic-diseases/gaucher-disease/guide/
Gaucher disease cannot be prevented in any given person, since it occurs due to genes that you inherit from your parents. But if you or your partner are of Ashkenazi (Central or Eastern European) Jewish descent, or if Gaucher disease runs in either family, you may decide to see a genetic counselor and consider genetic testing for the disease before starting a family, Mayo Clinic notes. Prenatal testing for Gaucher disease may also be an option.
- #3 Gaucher Disease Treatment & Management: Medical Care, Surgical Care, Consultationshttps://emedicine.medscape.com/article/944157-treatment
Gaucher disease is inherited as an autosomal recessive trait. While it is panethnic, Gaucher disease is more common in individuals of Ashkenazi Jewish. Although carrier-screening programs in this population have been established at some centers to identify couples at risk for having a child affected with Gaucher disease, testing must be offered in conjunction with genetic counseling to provide couples at risk, even asymptomatic individuals, with a description of the range of associated phenotypes and their options, which include prenatal diagnosis.
- #4 Diagnosis and management of patients with Gaucher disease: an Egyptian expert opinion | Egyptian Journal of Medical Human Genetics | Full Texthttps://jmhg.springeropen.com/articles/10.1186/s43042-024-00552-z
Genetic counseling should be provided to all families with a child with GD because it is the most potent method to decrease the incidence rate of GD in Egypt. […] Disease gene carrier frequency for GD in Egypt is unknown; however, genetic testing should be offered to extended families and relatives to identify the familial pathogenic variant. This is of utmost importance, considering the high rates of consanguineous marriage in Egypt, which are reported to vary between 29 and 39% in different studies. […] A carrier screening program is recommended in Egypt, and it is reasonable to test for the most common pathogenic variants among the Egyptian population (L444P and N370S).
- #5 Gaucher disease Information | Mount Sinai – New Yorkhttps://www.mountsinai.org/health-library/diseases-conditions/gaucher-disease
Genetic counseling is recommended for prospective parents with a family history of Gaucher disease. Testing can determine if both parents carry one variant copy of the gene and thus could pass on the Gaucher disease. A prenatal test can also tell if a baby in the womb has Gaucher disease.
- #6 What Is Gaucher Disease? Symptoms, Causes, Diagnosis, Treatment, and Preventionhttps://www.everydayhealth.com/genetic-diseases/gaucher-disease/guide/
Gaucher disease cannot be prevented in any given person, since it occurs due to genes that you inherit from your parents. But if you or your partner are of Ashkenazi (Central or Eastern European) Jewish descent, or if Gaucher disease runs in either family, you may decide to see a genetic counselor and consider genetic testing for the disease before starting a family, Mayo Clinic notes. Prenatal testing for Gaucher disease may also be an option.
- #7 Gaucher disease – Diagnosis and treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/gauchers-disease/diagnosis-treatment/drc-20355551
You might want to consider genetic screening before starting a family if you or your partner is of Ashkenazi Jewish heritage or if either of you have a family history of Gaucher disease. In some cases, doctors recommend prenatal testing to see if the fetus is at risk of Gaucher disease. […] While there’s no cure for Gaucher disease, a variety of treatments can help control symptoms, prevent irreversible damage and improve quality of life. […] Your doctor likely will recommend routine monitoring to watch for disease progression and complications. How often you’ll need to be monitored will depend on your situation.
- #8 Gaucher disease – Diagnosis and treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/gauchers-disease/diagnosis-treatment/drc-20355551
You might want to consider genetic screening before starting a family if you or your partner is of Ashkenazi Jewish heritage or if either of you have a family history of Gaucher disease. In some cases, doctors recommend prenatal testing to see if the fetus is at risk of Gaucher disease. […] While there’s no cure for Gaucher disease, a variety of treatments can help control symptoms, prevent irreversible damage and improve quality of life. […] Your doctor likely will recommend routine monitoring to watch for disease progression and complications. How often you’ll need to be monitored will depend on your situation.
- #9 Gaucher Diseasehttps://healthlibrary.vidanthealth.com/Search/134,211
What can I do to prevent Gaucher disease? […] If Gaucher disease runs in your family, talk with a genetic counselor. They can help you find out your risk of having the disease. You may also learn your chances of passing on the disease to your children. […] Testing the brother or sister of someone with Gaucher disease may help find the disease early. This can help with treatment.
- #10 Content – Health Encyclopedia – University of Rochester Medical Centerhttps://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=134&contentid=211
If Gaucher disease runs in your family, talk with a genetic counselor. They can help you find out your risk of having the disease. You may also learn your chances of passing on the disease to your children. […] Testing the brother or sister of someone with Gaucher disease may help find the disease early. This can help with treatment.
- #11 Gaucher Disease: Symptoms, Causes & Treatmenthttps://my.clevelandclinic.org/health/diseases/16234-gaucher-disease
Theres no way to prevent Gaucher disease if you have the genetic mutation. […] Its wise to have testing if youre at risk. Early treatment may prevent damage to bones and organs from Gaucher disease type 1. […] If a DNA test shows that youre a Gaucher carrier, and youre planning on starting a family, talk to your healthcare provider. A genetic counselor can give you more information and help you make a plan to decrease the chance of passing on the gene.
- #12 Gaucher Disease: Symptoms, Causes & Treatmenthttps://my.clevelandclinic.org/health/diseases/16234-gaucher-disease
Theres no way to prevent Gaucher disease if you have the genetic mutation. […] Its wise to have testing if youre at risk. Early treatment may prevent damage to bones and organs from Gaucher disease type 1. […] If a DNA test shows that youre a Gaucher carrier, and youre planning on starting a family, talk to your healthcare provider. A genetic counselor can give you more information and help you make a plan to decrease the chance of passing on the gene.
- #13 Gaucher disease Information | Mount Sinai – New Yorkhttps://www.mountsinai.org/health-library/diseases-conditions/gaucher-disease
Genetic counseling is recommended for prospective parents with a family history of Gaucher disease. Testing can determine if both parents carry one variant copy of the gene and thus could pass on the Gaucher disease. A prenatal test can also tell if a baby in the womb has Gaucher disease.
- #14 Gaucher disease – Diagnosis and treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/gauchers-disease/diagnosis-treatment/drc-20355551
You might want to consider genetic screening before starting a family if you or your partner is of Ashkenazi Jewish heritage or if either of you have a family history of Gaucher disease. In some cases, doctors recommend prenatal testing to see if the fetus is at risk of Gaucher disease. […] While there’s no cure for Gaucher disease, a variety of treatments can help control symptoms, prevent irreversible damage and improve quality of life. […] Your doctor likely will recommend routine monitoring to watch for disease progression and complications. How often you’ll need to be monitored will depend on your situation.
- #15 What Is Gaucher Disease? Symptoms, Causes, Diagnosis, Treatment, and Preventionhttps://www.everydayhealth.com/genetic-diseases/gaucher-disease/guide/
Gaucher disease cannot be prevented in any given person, since it occurs due to genes that you inherit from your parents. But if you or your partner are of Ashkenazi (Central or Eastern European) Jewish descent, or if Gaucher disease runs in either family, you may decide to see a genetic counselor and consider genetic testing for the disease before starting a family, Mayo Clinic notes. Prenatal testing for Gaucher disease may also be an option.
- #16 Gaucher disease – UF Healthhttps://ufhealth.org/conditions-and-treatments/gaucher-disease
Genetic counseling is recommended for prospective parents with a family history of Gaucher disease. Testing can determine if parents carry the gene that could pass on the Gaucher disease. A prenatal test can also tell if a baby in the womb has Gaucher syndrome.
- #17 Diagnosis and management of patients with Gaucher disease: an Egyptian expert opinion | Egyptian Journal of Medical Human Genetics | Full Texthttps://jmhg.springeropen.com/articles/10.1186/s43042-024-00552-z
Genetic counseling should be provided to all families with a child with GD because it is the most potent method to decrease the incidence rate of GD in Egypt. […] Disease gene carrier frequency for GD in Egypt is unknown; however, genetic testing should be offered to extended families and relatives to identify the familial pathogenic variant. This is of utmost importance, considering the high rates of consanguineous marriage in Egypt, which are reported to vary between 29 and 39% in different studies. […] A carrier screening program is recommended in Egypt, and it is reasonable to test for the most common pathogenic variants among the Egyptian population (L444P and N370S).
- #18 Gaucher | Baby’s First Test | Newborn Screening | Baby Healthhttps://www.babysfirsttest.org/newborn-screening/conditions/gaucher
There are five forms of Gaucher, which are classified based on their organ system involvement and level of severity. […] In some forms of Gaucher, detecting the condition early and beginning proper treatment may help prevent some of the severe health outcomes associated with the condition. […] It is suggested that individuals with some forms of Gaucher begin ERT as soon as possible, even if symptoms have not yet appeared, to reduce future risks for complications due to liver and spleen enlargement and to improve overall bone health. […] Early identification and treatment often allows children with Gaucher disease types 1, 3 and cardiovascular form to live healthier lives with fewer complications. This is why newborn screening for Gaucher is so important.
- #19 Gaucher disease – Diagnosis and treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/gauchers-disease/diagnosis-treatment/drc-20355551
You might want to consider genetic screening before starting a family if you or your partner is of Ashkenazi Jewish heritage or if either of you have a family history of Gaucher disease. In some cases, doctors recommend prenatal testing to see if the fetus is at risk of Gaucher disease. […] While there’s no cure for Gaucher disease, a variety of treatments can help control symptoms, prevent irreversible damage and improve quality of life. […] Your doctor likely will recommend routine monitoring to watch for disease progression and complications. How often you’ll need to be monitored will depend on your situation.
- #20 Gaucher disease | Newborn Screeninghttps://newbornscreening.hrsa.gov/conditions/gaucher-disease
It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition. […] Treatments may include the following: […] Children who receive early and ongoing treatment for Gaucher disease can live longer and have better growth.
- #21 Gaucher Disease | Pediatric Orthopaedic Society of North America (POSNA)https://posna.org/physician-education/study-guide/gaucher-disease
Treatment of bone crises is supportive. […] Enzyme replacement, if started early in life, can prevent skeletal deformity and allow normal skeletal development and growth, as well as decrease the incidence of bone crises and fractures.
- #22 Gaucher Disease: Steven’s Story | Children’s Hospital of Philadelphiahttps://www.chop.edu/stories/gaucher-disease-stevens-story
Since 1991, the disease has been treatable with regular enzyme replacement therapy which can prevent nearly all symptoms if taken before permanent bone damage sets in but the medication is not readily available in much of Asia. […] Kaplan hopes that a new medication with molecules small enough to reach the brain, currently in trials at Genzyme, will become available before Steven shows neurologic problems.
- #23 Gaucher | Baby’s First Test | Newborn Screening | Baby Healthhttps://www.babysfirsttest.org/newborn-screening/conditions/gaucher
There are five forms of Gaucher, which are classified based on their organ system involvement and level of severity. […] In some forms of Gaucher, detecting the condition early and beginning proper treatment may help prevent some of the severe health outcomes associated with the condition. […] It is suggested that individuals with some forms of Gaucher begin ERT as soon as possible, even if symptoms have not yet appeared, to reduce future risks for complications due to liver and spleen enlargement and to improve overall bone health. […] Early identification and treatment often allows children with Gaucher disease types 1, 3 and cardiovascular form to live healthier lives with fewer complications. This is why newborn screening for Gaucher is so important.
- #24 Gaucher Types 2 and 3 | Prenatal Enzyme Replacement for Lysosomal Diseases | PEARL Trialhttps://pearltrial.ucsf.edu/Gaucher-fetal-treatment
UCSF has an FDA-approved clinical trial to treat fetuses with Gaucher disease types 2 and 3 before birth. Treating before birth may improve outcomes and survival rates. The immune system before birth is less likely to make antibodies against the enzyme. By giving ERT before birth we may be able to prevent antibody creation long-term (also known as tolerance). Prenatal treatment might also allow some of the enzyme to reach and treat the fetus’s brain. UCSF hopes that prenatal ERT will prevent or reduce the damage that starts in pregnancy. […] Prenatal ERT is currently available through a clinical trial. It is a treatment given before birth to prevent or lessen the impact of Gaucher disease types 2 and 3. It uses the same medication approved for babies, children, and adults with Gaucher disease types 2 and 3. […] The PEARL Trial is the first to give Prenatal ERT for Gaucher disease types 2 and 3. This means that a fetus receives ERT before birth. The goal of this new strategy is to avoid the drawbacks of waiting until after birth for treatment.
- #25 Gaucher Types 2 and 3 | Prenatal Enzyme Replacement for Lysosomal Diseases | PEARL Trialhttps://pearltrial.ucsf.edu/Gaucher-fetal-treatment
UCSF has an FDA-approved clinical trial to treat fetuses with Gaucher disease types 2 and 3 before birth. Treating before birth may improve outcomes and survival rates. The immune system before birth is less likely to make antibodies against the enzyme. By giving ERT before birth we may be able to prevent antibody creation long-term (also known as tolerance). Prenatal treatment might also allow some of the enzyme to reach and treat the fetus’s brain. UCSF hopes that prenatal ERT will prevent or reduce the damage that starts in pregnancy. […] Prenatal ERT is currently available through a clinical trial. It is a treatment given before birth to prevent or lessen the impact of Gaucher disease types 2 and 3. It uses the same medication approved for babies, children, and adults with Gaucher disease types 2 and 3. […] The PEARL Trial is the first to give Prenatal ERT for Gaucher disease types 2 and 3. This means that a fetus receives ERT before birth. The goal of this new strategy is to avoid the drawbacks of waiting until after birth for treatment.
- #26 Gaucher Disease: A Rare Disease Sheds Light on More Common Conditions > News > Yale Medicinehttps://www.yalemedicine.org/news/gaucher-disease-interview
Dr. Mistry believes such treatment strategies could prevent multiple myeloma in future generations of Gaucher patients. […] With a hypothesis to explain this process, Dr. Mistry led an international clinical trial testing a pill that slows the Gaucher disease process, replacing the traditional biweekly infusion treatments. […] Further studies indicated that this pill not only treated Gaucher symptoms but also reduced the precancerous conditions associated with multiple myeloma.
- #27 Successful treatment of Gaucher disease type 1 by enzyme replacement therapy over a 10-year duration in a Japanese pediatric patient: A case reporthttps://www.spandidos-publications.com/10.3892/etm.2021.9677
A previous study indicated that long-term high-dose ERT (60 U/kg every 2 weeks) was required to obtain sufficient improvement to maintain health among pediatric patients with severe GD and ERT reduction (from 60 to 30 or 15 U/kg every 2 weeks) was associated with insufficient improvement of hemoglobin levels and the platelet count (14). […] Therefore, in the present case, long-term high-dose ERT (60 U/kg every 2 weeks) was maintained without any dose reduction. […] It may be reasoned that as the patient was young, neurological symptoms may not have developed and early initiation of ERT may have contributed to the prevention of these symptoms. […] In conclusion, the present study reported the case of a Japanese pediatric patient with GD type 1 who, despite having a high disease severity, exhibited significant improvements on ERT over a 10-year duration.
- #28 Successful treatment of Gaucher disease type 1 by enzyme replacement therapy over a 10-year duration in a Japanese pediatric patient: A case reporthttps://www.spandidos-publications.com/10.3892/etm.2021.9677
The prevalence associated with GD in Japan is lower than that in Western countries (1 per 330,000 vs. 1.16 per 100,000 live births, respectively) (7,8). […] Therefore, data on Japanese pediatric patients with GD type 1 are limited. The present study reported the case of a Japanese pediatric patient diagnosed with GD type 1, who presented with hepatosplenomegaly and thrombocytopenia at the age of 2 years, and was subsequently treated with ERT, which proved to be significantly effective for treating this condition. […] At 6 months following initiation of ERT, the liver and spleen of the patient had significantly decreased in size and had normalized after 1 year of ERT. Hemoglobin levels and the platelet count improved gradually and had normalized after 2 years. ACP and ACE, which are commonly used for clinical diagnosis and assessment of treatment effectiveness, decreased gradually after initiation of ERT.
- #29 Successful treatment of Gaucher disease type 1 by enzyme replacement therapy over a 10-year duration in a Japanese pediatric patient: A case reporthttps://www.spandidos-publications.com/10.3892/etm.2021.9677
A previous study indicated that long-term high-dose ERT (60 U/kg every 2 weeks) was required to obtain sufficient improvement to maintain health among pediatric patients with severe GD and ERT reduction (from 60 to 30 or 15 U/kg every 2 weeks) was associated with insufficient improvement of hemoglobin levels and the platelet count (14). […] Therefore, in the present case, long-term high-dose ERT (60 U/kg every 2 weeks) was maintained without any dose reduction. […] It may be reasoned that as the patient was young, neurological symptoms may not have developed and early initiation of ERT may have contributed to the prevention of these symptoms. […] In conclusion, the present study reported the case of a Japanese pediatric patient with GD type 1 who, despite having a high disease severity, exhibited significant improvements on ERT over a 10-year duration.
- #30 Gaucher Disease Treatment: Enzyme Replacement Therapy, Drugs, Surgery, and Morehttps://www.webmd.com/children/gauchers-treatment
There are a lot of ways to ease the symptoms of Gaucher disease. There’s no cure yet, but medicine and surgery may prevent damage to your organs and help you or your child live a more comfortable life. […] Both kids and adults with Gaucher should eat a healthy diet with foods rich in vitamin D and calcium to help keep bones strong, and get regular exercise. […] Vitamin D, calcium, or other supplements may help ease Gaucher symptoms too. Your doctor may recommend them if they think you’re not getting enough in your diet.
- #31 Gaucher Disease Treatment: Enzyme Replacement Therapy, Drugs, Surgery, and Morehttps://www.webmd.com/children/gauchers-treatment
There are a lot of ways to ease the symptoms of Gaucher disease. There’s no cure yet, but medicine and surgery may prevent damage to your organs and help you or your child live a more comfortable life. […] Both kids and adults with Gaucher should eat a healthy diet with foods rich in vitamin D and calcium to help keep bones strong, and get regular exercise. […] Vitamin D, calcium, or other supplements may help ease Gaucher symptoms too. Your doctor may recommend them if they think you’re not getting enough in your diet.
- #32 Gaucher disease – Diagnosis and treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/gauchers-disease/diagnosis-treatment/drc-20355551
You might want to consider genetic screening before starting a family if you or your partner is of Ashkenazi Jewish heritage or if either of you have a family history of Gaucher disease. In some cases, doctors recommend prenatal testing to see if the fetus is at risk of Gaucher disease. […] While there’s no cure for Gaucher disease, a variety of treatments can help control symptoms, prevent irreversible damage and improve quality of life. […] Your doctor likely will recommend routine monitoring to watch for disease progression and complications. How often you’ll need to be monitored will depend on your situation.
- #33 Content – Health Encyclopedia – University of Rochester Medical Centerhttps://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=134&contentid=211
If Gaucher disease runs in your family, talk with a genetic counselor. They can help you find out your risk of having the disease. You may also learn your chances of passing on the disease to your children. […] Testing the brother or sister of someone with Gaucher disease may help find the disease early. This can help with treatment.
- #34 Gaucher Diseasehttps://healthlibrary.vidanthealth.com/Search/134,211
What can I do to prevent Gaucher disease? […] If Gaucher disease runs in your family, talk with a genetic counselor. They can help you find out your risk of having the disease. You may also learn your chances of passing on the disease to your children. […] Testing the brother or sister of someone with Gaucher disease may help find the disease early. This can help with treatment.
- #35 GD1 Treatmenthttps://www.gauchercare.com/gd1-treatment
Gaucher disease type 1 (GD1) can get worse over time, and damage caused by GD1 may be irreversible. Treatment may help improve certain symptoms and may help prevent certain long-term complications. […] In the long term, treatment for GD1 may help prevent certain complications. […] The goal of treatment is to reduce or prevent the buildup of GL-1.
- #36 GD1 Treatmenthttps://www.gauchercare.com/gd1-treatment
Gaucher disease type 1 (GD1) can get worse over time, and damage caused by GD1 may be irreversible. Treatment may help improve certain symptoms and may help prevent certain long-term complications. […] In the long term, treatment for GD1 may help prevent certain complications. […] The goal of treatment is to reduce or prevent the buildup of GL-1.
- #37 Gaucher disease | Newborn Screeninghttps://newbornscreening.hrsa.gov/conditions/gaucher-disease
It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition. […] Treatments may include the following: […] Children who receive early and ongoing treatment for Gaucher disease can live longer and have better growth.