A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation
Gaucher disease type 2 is the most progressive and the rarest form of Gaucher disease, defined as the acute neuronopathic type. We presented two GD2 patients who died before three months of age due to severe septicemia, respiratory and liver failure. One was homozygous for a novel GBA variant c.590 ...
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| Veröffentlicht in: | Metabolic brain disease 2022-04, Vol.37 (4), p.1283-1287 |
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| creator | Kılavuz, Sebile Basaranoglu, Murat Epcacan, Serdar Bako, Derya Ozer, Arife Donmez, Yasemin Nuran Ceylan, Emine Ipek Tukun, Ajlan Ceylaner, Serdar Geylani, Hadi Mungan, Halise Neslihan Onenli |
| description | Gaucher disease type 2 is the most progressive and the rarest form of Gaucher disease, defined as the acute neuronopathic type. We presented two GD2 patients who died before three months of age due to severe septicemia, respiratory and liver failure. One was homozygous for a novel
GBA
variant c.590 T > A (p.197 K), and the second homozygous for the known
GBA
mutation c.1505G > A (p.R502H). Ichthyosis, hydrops fetalis, apnea, myoclonic seizures, and hepatosplenomegaly occurred in both patients, but hypertrophic cardiomyopathy was observed only in the second and unilateral cataract in the first patient. Due to the disease’s early and rapid neurological progression, we did not administer ERT to our patients. It is strongly believed that early diagnosis is essential, and prenatal diagnosis makes genetic counselling possible for future pregnancies. |
| doi_str_mv | 10.1007/s11011-022-00942-5 |
| format | Article |
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GBA
variant c.590 T > A (p.197 K), and the second homozygous for the known
GBA
mutation c.1505G > A (p.R502H). Ichthyosis, hydrops fetalis, apnea, myoclonic seizures, and hepatosplenomegaly occurred in both patients, but hypertrophic cardiomyopathy was observed only in the second and unilateral cataract in the first patient. Due to the disease’s early and rapid neurological progression, we did not administer ERT to our patients. It is strongly believed that early diagnosis is essential, and prenatal diagnosis makes genetic counselling possible for future pregnancies.</description><identifier>ISSN: 0885-7490</identifier><identifier>EISSN: 1573-7365</identifier><identifier>DOI: 10.1007/s11011-022-00942-5</identifier><identifier>PMID: 35254599</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>Apnea ; Biochemistry ; Biomedical and Life Sciences ; Biomedicine ; Cardiomyopathy ; Diagnosis ; Edema ; Female ; Gaucher Disease - complications ; Gaucher Disease - diagnosis ; Gaucher Disease - genetics ; Gaucher's disease ; Genetic counseling ; Genetic screening ; Homozygote ; Humans ; Hydrops fetalis ; Hydrops Fetalis - etiology ; Hydrops Fetalis - genetics ; Ichthyosis ; Liver diseases ; Metabolic Diseases ; Mutation ; Mutation - genetics ; Neurology ; Neurosciences ; Oncology ; Pregnancy ; Prenatal diagnosis ; Seizures ; Septicemia ; Short Communication ; Skin diseases</subject><ispartof>Metabolic brain disease, 2022-04, Vol.37 (4), p.1283-1287</ispartof><rights>The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2022</rights><rights>2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.</rights><rights>The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2022.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c375t-848888a222b79e8ddabcb95e8318902cab9e1ac15088ff91544c4cdb228d30f73</citedby><cites>FETCH-LOGICAL-c375t-848888a222b79e8ddabcb95e8318902cab9e1ac15088ff91544c4cdb228d30f73</cites><orcidid>0000-0001-7862-3038 ; 0000-0002-7527-2620</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s11011-022-00942-5$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s11011-022-00942-5$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>315,781,785,27929,27930,41493,42562,51324</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/35254599$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Kılavuz, Sebile</creatorcontrib><creatorcontrib>Basaranoglu, Murat</creatorcontrib><creatorcontrib>Epcacan, Serdar</creatorcontrib><creatorcontrib>Bako, Derya</creatorcontrib><creatorcontrib>Ozer, Arife</creatorcontrib><creatorcontrib>Donmez, Yasemin Nuran</creatorcontrib><creatorcontrib>Ceylan, Emine Ipek</creatorcontrib><creatorcontrib>Tukun, Ajlan</creatorcontrib><creatorcontrib>Ceylaner, Serdar</creatorcontrib><creatorcontrib>Geylani, Hadi</creatorcontrib><creatorcontrib>Mungan, Halise Neslihan Onenli</creatorcontrib><title>A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation</title><title>Metabolic brain disease</title><addtitle>Metab Brain Dis</addtitle><addtitle>Metab Brain Dis</addtitle><description>Gaucher disease type 2 is the most progressive and the rarest form of Gaucher disease, defined as the acute neuronopathic type. We presented two GD2 patients who died before three months of age due to severe septicemia, respiratory and liver failure. One was homozygous for a novel
GBA
variant c.590 T > A (p.197 K), and the second homozygous for the known
GBA
mutation c.1505G > A (p.R502H). Ichthyosis, hydrops fetalis, apnea, myoclonic seizures, and hepatosplenomegaly occurred in both patients, but hypertrophic cardiomyopathy was observed only in the second and unilateral cataract in the first patient. Due to the disease’s early and rapid neurological progression, we did not administer ERT to our patients. It is strongly believed that early diagnosis is essential, and prenatal diagnosis makes genetic counselling possible for future pregnancies.</description><subject>Apnea</subject><subject>Biochemistry</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cardiomyopathy</subject><subject>Diagnosis</subject><subject>Edema</subject><subject>Female</subject><subject>Gaucher Disease - complications</subject><subject>Gaucher Disease - diagnosis</subject><subject>Gaucher Disease - genetics</subject><subject>Gaucher's disease</subject><subject>Genetic counseling</subject><subject>Genetic screening</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Hydrops fetalis</subject><subject>Hydrops Fetalis - etiology</subject><subject>Hydrops Fetalis - genetics</subject><subject>Ichthyosis</subject><subject>Liver diseases</subject><subject>Metabolic Diseases</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>Neurology</subject><subject>Neurosciences</subject><subject>Oncology</subject><subject>Pregnancy</subject><subject>Prenatal diagnosis</subject><subject>Seizures</subject><subject>Septicemia</subject><subject>Short Communication</subject><subject>Skin diseases</subject><issn>0885-7490</issn><issn>1573-7365</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp9kMFO3DAQhi3UqizQF-ihssSll8DYjjf2cbWiWyQkLvSGZDnOhA3KxsF2QPv2eBtaJA71ZST7m388HyHfGFwwgOoyMgaMFcB5AaBLXsgjsmCyEkUllvITWYBSsqhKDcfkJMZHABCS6S_kWEguS6n1gtyvaLABqbNTROpbut03wY-Rtphs30XaDTS9eLqxk9tioE0X0WYy7UeknI42dTikSF-6tKWWDv4Ze7qbUr73wxn53No-4te3ekp-_7y6W_8qbm431-vVTeFEJVOhSpWP5ZzXlUbVNLZ2tZaoBFMauLO1RmYdk3mfttVMlqUrXVNzrhoBbSVOyY85dwz-acKYzK6LDvveDuinaPhSLFUFSwkZPf-APvopDPl3mZJSCJnVZIrPlAs-xoCtGUO3s2FvGJiDezO7N9m9-ePeHJq-v0VP9Q6bfy1_ZWdAzEDMT8MDhvfZ_4l9BbFMjdg</recordid><startdate>20220401</startdate><enddate>20220401</enddate><creator>Kılavuz, Sebile</creator><creator>Basaranoglu, Murat</creator><creator>Epcacan, Serdar</creator><creator>Bako, Derya</creator><creator>Ozer, Arife</creator><creator>Donmez, Yasemin Nuran</creator><creator>Ceylan, Emine Ipek</creator><creator>Tukun, Ajlan</creator><creator>Ceylaner, Serdar</creator><creator>Geylani, Hadi</creator><creator>Mungan, Halise Neslihan Onenli</creator><general>Springer US</general><general>Springer Nature B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7TK</scope><scope>7U7</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88G</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-7862-3038</orcidid><orcidid>https://orcid.org/0000-0002-7527-2620</orcidid></search><sort><creationdate>20220401</creationdate><title>A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation</title><author>Kılavuz, Sebile ; Basaranoglu, Murat ; Epcacan, Serdar ; Bako, Derya ; Ozer, Arife ; Donmez, Yasemin Nuran ; Ceylan, Emine Ipek ; Tukun, Ajlan ; Ceylaner, Serdar ; Geylani, Hadi ; Mungan, Halise Neslihan Onenli</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c375t-848888a222b79e8ddabcb95e8318902cab9e1ac15088ff91544c4cdb228d30f73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Apnea</topic><topic>Biochemistry</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cardiomyopathy</topic><topic>Diagnosis</topic><topic>Edema</topic><topic>Female</topic><topic>Gaucher Disease - complications</topic><topic>Gaucher Disease - diagnosis</topic><topic>Gaucher Disease - genetics</topic><topic>Gaucher's disease</topic><topic>Genetic counseling</topic><topic>Genetic screening</topic><topic>Homozygote</topic><topic>Humans</topic><topic>Hydrops fetalis</topic><topic>Hydrops Fetalis - etiology</topic><topic>Hydrops Fetalis - genetics</topic><topic>Ichthyosis</topic><topic>Liver diseases</topic><topic>Metabolic Diseases</topic><topic>Mutation</topic><topic>Mutation - genetics</topic><topic>Neurology</topic><topic>Neurosciences</topic><topic>Oncology</topic><topic>Pregnancy</topic><topic>Prenatal diagnosis</topic><topic>Seizures</topic><topic>Septicemia</topic><topic>Short Communication</topic><topic>Skin diseases</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kılavuz, Sebile</creatorcontrib><creatorcontrib>Basaranoglu, Murat</creatorcontrib><creatorcontrib>Epcacan, Serdar</creatorcontrib><creatorcontrib>Bako, Derya</creatorcontrib><creatorcontrib>Ozer, Arife</creatorcontrib><creatorcontrib>Donmez, Yasemin Nuran</creatorcontrib><creatorcontrib>Ceylan, Emine Ipek</creatorcontrib><creatorcontrib>Tukun, Ajlan</creatorcontrib><creatorcontrib>Ceylaner, Serdar</creatorcontrib><creatorcontrib>Geylani, Hadi</creatorcontrib><creatorcontrib>Mungan, Halise Neslihan Onenli</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Neurosciences Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Psychology Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>Metabolic brain disease</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kılavuz, Sebile</au><au>Basaranoglu, Murat</au><au>Epcacan, Serdar</au><au>Bako, Derya</au><au>Ozer, Arife</au><au>Donmez, Yasemin Nuran</au><au>Ceylan, Emine Ipek</au><au>Tukun, Ajlan</au><au>Ceylaner, Serdar</au><au>Geylani, Hadi</au><au>Mungan, Halise Neslihan Onenli</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation</atitle><jtitle>Metabolic brain disease</jtitle><stitle>Metab Brain Dis</stitle><addtitle>Metab Brain Dis</addtitle><date>2022-04-01</date><risdate>2022</risdate><volume>37</volume><issue>4</issue><spage>1283</spage><epage>1287</epage><pages>1283-1287</pages><issn>0885-7490</issn><eissn>1573-7365</eissn><abstract>Gaucher disease type 2 is the most progressive and the rarest form of Gaucher disease, defined as the acute neuronopathic type. We presented two GD2 patients who died before three months of age due to severe septicemia, respiratory and liver failure. One was homozygous for a novel
GBA
variant c.590 T > A (p.197 K), and the second homozygous for the known
GBA
mutation c.1505G > A (p.R502H). Ichthyosis, hydrops fetalis, apnea, myoclonic seizures, and hepatosplenomegaly occurred in both patients, but hypertrophic cardiomyopathy was observed only in the second and unilateral cataract in the first patient. Due to the disease’s early and rapid neurological progression, we did not administer ERT to our patients. It is strongly believed that early diagnosis is essential, and prenatal diagnosis makes genetic counselling possible for future pregnancies.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>35254599</pmid><doi>10.1007/s11011-022-00942-5</doi><tpages>5</tpages><orcidid>https://orcid.org/0000-0001-7862-3038</orcidid><orcidid>https://orcid.org/0000-0002-7527-2620</orcidid></addata></record> |
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| subjects | Apnea Biochemistry Biomedical and Life Sciences Biomedicine Cardiomyopathy Diagnosis Edema Female Gaucher Disease - complications Gaucher Disease - diagnosis Gaucher Disease - genetics Gaucher's disease Genetic counseling Genetic screening Homozygote Humans Hydrops fetalis Hydrops Fetalis - etiology Hydrops Fetalis - genetics Ichthyosis Liver diseases Metabolic Diseases Mutation Mutation - genetics Neurology Neurosciences Oncology Pregnancy Prenatal diagnosis Seizures Septicemia Short Communication Skin diseases |
| title | A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation |
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