المتلازمة الكلوية الخلقية
آخر تحديث 18 Aug 2020
يتوافق مع الإرشادات التحريرية
- تنزيلتنزيل
- مشاركة
- Language
- نقاش
- نسخة صوتية
- أضف إلى المصادر المفضلة على جوجل
Congenital nephrotic syndrome is a kidney condition that begins in infancy and typically leads to irreversible kidney failure (end-stage renal disease) by early childhood. Children with congenital nephrotic syndrome begin to have symptoms of the condition between birth and 3 months.
الوصف
Congenital nephrotic syndrome is a kidney condition that begins in infancy and typically leads to irreversible kidney failure (end-stage renal disease) by early childhood. Children with congenital nephrotic syndrome begin to have symptoms of the condition between birth and 3 months.
The features of congenital nephrotic syndrome are caused by failure of the kidneys to filter waste products from the blood and remove them in urine. Signs and symptoms of this condition are excessive protein in the urine (proteinuria), increased cholesterol in the blood (hypercholesterolemia), an abnormal buildup of fluid in the abdominal cavity (ascites), and swelling (edema). Affected individuals may also have blood in the urine (hematuria), which can lead to a reduced number of red blood cells (anaemia) in the body, abnormal blood clotting, or reduced amounts of certain white blood cells. Low white blood cell counts can lead to a weakened immune system and frequent infections in people with congenital nephrotic syndrome.
Children with congenital nephrotic syndrome typically develop end-stage renal disease between ages 2 and 8, although with treatment, some may not have kidney failure until adolescence or early adulthood.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Familial nephrotic syndrome
Related patient information and medicines
Patient information leaflet
متلازمة الكلوية
Nephrotic syndrome is a condition where the 'filters' in the kidney become 'leaky' and large amounts of protein leak from the blood into the urine. FSGS accounts for up to 1 in 10 cases of neph... Congenital nephrotic syndrome This is a rare cause of nephrotic syndrome which affects children. 'Congenital' means it is present from birth. It is.
Patient information leaflet
الضلع العنقي
About 1 in 100 people are born with an extra rib called a cervical rib. About 1 in 10 people who have a cervical rib develop thoracic outlet syndrome. This happens if the cervical rib squashes the nerves and blood vessels going into the arm. About 1 in 200 people are born with an extra rib called a cervical rib. Because this is something that you.
Patient information leaflet
متلازمة تيرنر
متلازمة تيرنر is a genetic condition that only affects girls. The most characteristic features of the syndrome are being short, having certain physical features (detailed below), and ovaries that do not work properly. Although there is no cure, there are treatments that can help most girls with Turner syndrome lead relatively normal lives. Can.
Patient information leaflet
متلازمة شوغرن
متلازمة شوغرن هو autoimmune disease that causes the glands that produce tears and saliva to stop working. It is a life-long condition but treatments can help control symptoms such as dry eyes and dry mouth. What is Sjögren's syndrome. Sjögren's syndrome is a condition that causes the tear and saliva glands to stop working. It causes dry.
Patient information leaflet
متلازمة تململ الساقين
متلازمة تململ الساقين causes uncomfortable feelings in your legs. As a result, you have an urge to move your legs which gives temporary relief. Symptoms come on... Medication can ease symptoms if the condition is distressing. What is restless legs syndrome. Restless legs syndrome (RLS) is sometimes called Willis-Ekbom disease after the doctors.
Patient information leaflet
متلازمة بكاء القط
Cri du chat syndrome is a chromosome problem caused by a missing piece of chromosome 5. The syndrome is called cri du chat (French for cry of the cat) because affected babies often have a high-pitched cry. Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome. Cri du chat syndrome may cause a variety of.
قراءة إضافية ومراجع
- المتلازمة الكلوية الخلقية; MedlinePlus, National Library of Medicine.
- Fogo AB, Lusco MA, Najafian B, Alpers CE. AJKD Atlas of Renal Pathology: Congenital Nephrotic Syndrome of Finnish Type. Am J Kidney Dis. 2015 Sep;66(3):e11-2. doi: 10.1053/j.ajkd.2015.07.008. No abstract available.
- Grahammer F, Schell C, Huber TB. The podocyte slit diaphragm--from a thin grey line to a complex signalling hub. Nat Rev Nephrol. 2013 Oct;9(10):587-98. doi: 10.1038/nrneph.2013.169. Epub 2013 Sep 3.
- Hinkes BG, Mucha B, Vlangos CN, Gbadegesin R, Liu J, Hasselbacher K, Hangan D, Ozaltin F, Zenker M, Hildebrandt F; Arbeitsgemeinschaft fur Paediatrische Nephrologie Study Group. Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics. 2007 Apr;119(4):e907-19. doi: 10.1542/peds.2006-2164. Epub 2007 Mar 19.
- Machuca E, Benoit G, Nevo F, Tete MJ, Gribouval O, Pawtowski A, Brandstrom P, Loirat C, Niaudet P, Gubler MC, Antignac C. Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. J Am Soc Nephrol. 2010 Jul;21(7):1209-17. doi: 10.1681/ASN.2009121309. Epub 2010 May 27.
- Nishi S, Ubara Y, Utsunomiya Y, Okada K, Obata Y, Kai H, Kiyomoto H, Goto S, Konta T, Sasatomi Y, Sato Y, Nishino T, Tsuruya K, Furuichi K, Hoshino J, Watanabe Y, Kimura K, Matsuo S. Evidence-based clinical practice guidelines for nephrotic syndrome 2014. Clin Exp Nephrol. 2016 Jun;20(3):342-70. doi: 10.1007/s10157-015-1216-x. No abstract available.
- Ovunc B, Ashraf S, Vega-Warner V, Bockenhauer D, Elshakhs NA, Joseph M, Hildebrandt F; Gesellschaft fur Padiatrische Nephrologie (GPN) Study Group. Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients. Nephron Clin Pract. 2012;120(3):c139-46. doi: 10.1159/000337379. Epub 2012 May 11.
- Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA; SRNS Study Group; Hildebrandt F. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2015 Jun;26(6):1279-89. doi: 10.1681/ASN.2014050489. Epub 2014 Oct 27.
- Sampson MG, Pollak MR. Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic Era. Semin Nephrol. 2015 May;35(3):212-21. doi: 10.1016/j.semnephrol.2015.04.002.
- Schoeb DS, Chernin G, Heeringa SF, Matejas V, Held S, Vega-Warner V, Bockenhauer D, Vlangos CN, Moorani KN, Neuhaus TJ, Kari JA, MacDonald J, Saisawat P, Ashraf S, Ovunc B, Zenker M, Hildebrandt F; Gesselschaft fur Paediatrische Nephrologie (GPN) Study Group. Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). Nephrol Dial Transplant. 2010 Sep;25(9):2970-6. doi: 10.1093/ndt/gfq088. Epub 2010 Feb 18.
- Wang JJ, Mao JH. The etiology of congenital nephrotic syndrome: current status and challenges. World J Pediatr. 2016 May;12(2):149-58. doi: 10.1007/s12519-016-0009-y. Epub 2016 Mar 9.
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
18 Aug 2020 | أحدث إصدار
1 Jul 2016 | نُشر في الأصل
انضم إلى المحادثة
شارك أفكارك أو تجاربك مع الآخرين في مجتمعات المرضى.
اسأل، شارك، تواصل.
تصفح المناقشات، اطرح الأسئلة، وشارك التجارب عبر مئات المواضيع الصحية.
اشترك في النشرة الإخبارية للمرضى
جرعتك الأسبوعية من النصائح الصحية الواضحة والموثوقة - مكتوبة لمساعدتك على الشعور بالاطلاع والثقة والتحكم.
من خلال الاشتراك، فإنك تقبل سياسة الخصوصية. يمكنك إلغاء الاشتراك في أي وقت. نحن لا نبيع بياناتك أبدًا.