{"id":22029,"date":"2022-08-29T07:56:49","date_gmt":"2022-08-29T07:56:49","guid":{"rendered":"https:\/\/catweb.ro\/babydetect\/?p=22029"},"modified":"2024-01-15T18:02:46","modified_gmt":"2024-01-15T18:02:46","slug":"congenital-nephrosis-syndrome-finnish-cns-nphs1-gene","status":"publish","type":"post","link":"https:\/\/www.babydetect.be\/en\/congenital-nephrosis-syndrome-finnish-cns-nphs1-gene\/","title":{"rendered":"Congenital nephrosis syndrome, Finnish (CNS)"},"content":{"rendered":"<h4>NPHS1 gene<\/h4>\n<p><em>Also known as: Nephrotic syndrome, type 1; Congenital nephrotic syndrome<\/em><\/p>\n<p><strong>OMIM#256300 <\/strong>https:\/\/omim.org\/entry\/256300<\/p>\n<h4><strong>1. The Disease:<\/strong><\/h4>\n<p>A rare congenital nephrotic syndrome characterized by massive protein loss and marked edema manifesting\u00a0<em>in utero\u00a0<\/em>or during the first 3 months of life. This type of nephrotic syndrome is more frequent in Finland with a prevalence of 1\/8,200 births. The disease is observed in various ethnic groups worldwide but the prevalence is unknown.<\/p>\n<h4><strong>2. The Symptoms:<\/strong><\/h4>\n<p>Severe nephrotic syndrome develops soon after birth; typical features include hypoalbuminemia, hyperlipidaemia, hypothyreosis, abdominal distension and oedema with associated failure to thrive, increased susceptibility to thromboembolic events and severe infections. <strong>Lack of early signs or symptoms does not exclude the diagnosis.<\/strong><\/p>\n<ul>\n<li>Affected children show massive proteinuria and oedema starting <em>in utero<\/em> (foetal hydrops). Children usually have low birth weight and are born prematurely; the weight of the placenta constitutes more than 25% of the birth weight.<\/li>\n<li>Histologically, microcystic dilatations of the tubules are seen whereas glomeruli are only slightly modified initially, with variable mesangial cell hypercellularity and\/or endocapillary hypercellularity. Electron microscopy shows glomerular effacement of the podocytes.<\/li>\n<\/ul>\n<h4><strong>3. Actions to take in case of early diagnosis<\/strong><\/h4>\n<ul>\n<li>Infants with a positive genetic test (2 different mutations or 1 mutation in homozygous state in the <em>NPHS1<\/em> gene) should continue breastfeeding<\/li>\n<li>The diagnosis is based on genetic results, familial history, clinical signs, and eventually renal biopsy.<\/li>\n<li>CNS, Finnish type is a lifelong condition that requires lifetime management and regular follow-up with a nephrology specialist and a multidisciplinary approach to care, including paediatrics and genetics.<\/li>\n<li>The nephrotic syndrome does not respond to any immunosuppressive therapy and treatment is largely symptomatic, comprising frequent albumin infusions, anti-proteinuric pharmacotherapy with RAS (renin-angiotensin system) inhibitors and indomethacin, anticoagulation, thyroid hormone supplementation and aggressive treatment of infections.<\/li>\n<li>With adequate supportive care, most children survive long-term but develop end-stage kidney disease <u>requiring renal replacement therapy within the first 2-3 years of life<\/u>. Five-year patient and graft survival after transplantation is around 90%, similar as in infants with other causes of end-stage kidney disease. Post-transplant disease recurrence is limited to patients who are homozygous for the Finnish major mutation (a rare 2 base pair deletion in exon 2 of <em>NPHS1<\/em>), who have a 30% risk to develop de novo glomerulonephritis due to circulating anti-nephrin antibodies.<\/li>\n<li>The pattern of disease transmission is autosomal recessive. The risk of recurrence in siblings of an affected individual is 25%. Genetic counselling is highly recommended for family planning and evaluation of at-risk family members such as siblings, especially in X-linked cases.<\/li>\n<\/ul>\n<h4><strong>4. For more information:<\/strong><\/h4>\n<ul>\n<li>Orphanet: <a href=\"https:\/\/www.orpha.net\/consor\/cgi-bin\/Disease_Search.php?lng=EN&amp;data_id=4048&amp;Disease_Disease_Search_diseaseGroup=NPHS1&amp;Disease_Disease_Search_diseaseType=Gen&amp;Disease(s)\/group%20of%20diseases=Congenital-nephrotic-syndrome--Finnish-type&amp;title=Congenital%20nep\"><strong>https:\/\/www.orpha.net\/consor\/cgi-bin\/Disease_Search.php?lng=EN&amp;data_id=4048&amp;Disease_Disease_Search_diseaseGroup=NPHS1&amp;Disease_Disease_Search_diseaseType=Gen&amp;Disease(s)\/group%20of%20diseases=Congenital-nephrotic-syndrome&#8211;Finnish-type&amp;title=Congenital%20nephrotic%20syndrome,%20Finnish%20type&amp;search=Disease_Search_Simple<\/strong><\/a><\/li>\n<li><strong>H\u00f6ltt\u00e4 T, Jalanko H. Congenital nephrotic syndrome: is early aggressive treatment needed? Yes. Pediatr Nephrol. 2020; 35(10): 1985-1990. PMID: 32377865<\/strong><\/li>\n<\/ul>\n","protected":false},"excerpt":{"rendered":"<p>NPHS1 gene Also known as: Nephrotic syndrome, type 1; Congenital nephrotic syndrome OMIM#256300 https:\/\/omim.org\/entry\/256300 1. The Disease: A rare congenital nephrotic syndrome characterized by massive protein loss and marked edema manifesting\u00a0in utero\u00a0or during the first 3 months of life. This type of nephrotic syndrome is more frequent in Finland with a prevalence of 1\/8,200 births&#8230;.<\/p>\n","protected":false},"author":1,"featured_media":22349,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[41],"tags":[],"_links":{"self":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22029"}],"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=22029"}],"version-history":[{"count":1,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22029\/revisions"}],"predecessor-version":[{"id":23779,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/22029\/revisions\/23779"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/media\/22349"}],"wp:attachment":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/media?parent=22029"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/categories?post=22029"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/tags?post=22029"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}