{"id":22346,"date":"2022-08-31T10:08:10","date_gmt":"2022-08-31T10:08:10","guid":{"rendered":"https:\/\/catweb.ro\/babydetect\/?p=22346"},"modified":"2022-09-05T13:44:57","modified_gmt":"2022-09-05T13:44:57","slug":"shwachman-diamond-syndrome-sds-sbds-efl1-dnajc21-and-srp54-genes","status":"publish","type":"post","link":"https:\/\/www.babydetect.be\/en\/shwachman-diamond-syndrome-sds-sbds-efl1-dnajc21-and-srp54-genes\/","title":{"rendered":"Shwachman-Diamond Syndrome"},"content":{"rendered":"<p>SBDS, EFL1, DNAJC21 and SRP54 genes<\/p>\n<p><u>Also known as<\/u>: SDS, Shwachman-Bodian-Diamond Syndrome; Pancreatic insufficiency and bone marrow dysfunction; Lipomatosis of pancreas, congenital<\/p>\n<p><strong>Includes:<\/strong><\/p>\n<p><strong>OMIM#260400 <\/strong><a href=\"https:\/\/omim.org\/entry\/260400\"><strong>https:\/\/omim.org\/entry\/260400<\/strong><\/a><\/p>\n<p><strong>OMIM#617941 <\/strong><a href=\"https:\/\/omim.org\/entry\/617941\"><strong>https:\/\/omim.org\/entry\/617941<\/strong><\/a><\/p>\n<h4>1. The disease:<\/h4>\n<p>Shwachman-Diamond syndrome (SDS) is a rare, inherited bone marrow failure, characterized by a low number of white blood cells, poor growth due to difficulty absorbing food, and, in some cases, skeletal abnormalities.<\/p>\n<h4>2. The symptoms:<\/h4>\n<p>In almost all affected children, persistent or intermittent low white blood cells is a common presenting finding, often before the diagnosis of SDS is made. Short stature and recurrent infections are common. <em>Lack of early signs or symptoms does not exclude the diagnosis.<\/em><\/p>\n<h4>3. Actions to take in case of early diagnosis:<\/h4>\n<ul>\n<li>Infants with a positive genetic test (having 2 pathogenic variants or 2 copies of a single pathogenic variant in one of the 3 genes &#8211; <em>SBDS, EFL1, DNAJC21<\/em> or 1 pathogenic variant in heterozygosis in the SRP54 gene) should continue breastfeeding.<\/li>\n<li>When possible (not expected in the newborn) clinical correlation with classic findings of exocrine pancreatic dysfunction and bone marrow dysfunction may help.<\/li>\n<li>SDS is a lifelong condition that requires lifetime management and regular follow-up with a multidisciplinary approach to care, including pediatrics, gastroenterology, hematologist, genetics, and nutrition.<\/li>\n<li>Exocrine pancreatic insufficiency is treated with oral pancreatic enzymes and fat-soluble vitamin supplementation.<\/li>\n<li>Blood and\/or platelet transfusions may be considered for anemia and\/or thrombocytopenia associated with bi- or pancytopenia.<\/li>\n<li>If recurrent infections are severe and absolute neutrophil counts are persistently \u2264500\/mm3, treatment with granulocyte-colony stimulation factor (G-CSF) can be considered.<\/li>\n<li>Hematopoietic stem cell transplantation (HSCT) should be considered for treatment of bone marrow aplasia, acute myeloid leukemia or a myelodysplastic syndrome.<\/li>\n<li>Genetic counseling is highly recommended for family planning and evaluation of at-risk family members such as siblings.<\/li>\n<\/ul>\n<h4>4. For more information<strong>:<\/strong><\/h4>\n<p><strong>Orphanet :<\/strong> <a href=\"https:\/\/www.orpha.net\/consor\/cgi-bin\/Disease_Search.php?lng=EN&amp;data_id=5536&amp;Disease_Disease_Search_diseaseGroup=Shwachman-Diamond-syndrome&amp;Disease_Disease_Search_diseaseType=Pat&amp;Disease(s)\/group%20of%20diseases=Shwachman-Diamond-syndrome&amp;title=Shwachman-Diamond%20syndrome&amp;search=Disease_Search_Simple\">https:\/\/www.orpha.net\/consor\/cgi-bin\/Disease_Search.php?lng=EN&amp;data_id=5536&amp;Disease_Disease_Search_diseaseGroup=Shwachman-Diamond-syndrome&amp;Disease_Disease_Search_diseaseType=Pat&amp;Disease(s)\/group%20of%20diseases=Shwachman-Diamond-syndrome&amp;title=Shwachman-Diamond%20syndrome&amp;search=Disease_Search_Simple<\/a><\/p>\n<p><strong>Biblio:<\/strong> https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1756\/<\/p>\n","protected":false},"excerpt":{"rendered":"<p>SBDS, EFL1, DNAJC21 and SRP54 genes Also known as: SDS, Shwachman-Bodian-Diamond Syndrome; Pancreatic insufficiency and bone marrow dysfunction; Lipomatosis of pancreas, congenital Includes: OMIM#260400 https:\/\/omim.org\/entry\/260400 OMIM#617941 https:\/\/omim.org\/entry\/617941 1. The disease: Shwachman-Diamond syndrome (SDS) is a rare, inherited bone marrow failure, characterized by a low number of white blood cells, poor growth due to difficulty absorbing&#8230;<\/p>\n","protected":false},"author":1,"featured_media":22266,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[37],"tags":[],"_links":{"self":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22346"}],"collection":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/comments?post=22346"}],"version-history":[{"count":0,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22346\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/media\/22266"}],"wp:attachment":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/media?parent=22346"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/categories?post=22346"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/tags?post=22346"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}