{"id":66,"date":"2009-02-27T00:15:45","date_gmt":"2009-02-27T00:15:45","guid":{"rendered":"https:\/\/medicalcriteria.com\/web\/pedcf\/"},"modified":"2025-05-14T20:59:38","modified_gmt":"2025-05-14T20:59:38","slug":"pedcf","status":"publish","type":"post","link":"https:\/\/medicalcriteria.com\/web\/pedcf\/","title":{"rendered":"Diagnostic Criteria for Cystic Fibrosis (CF)"},"content":{"rendered":"<div class=\"99c380e4b4a7b96c35d7ddf7dcb434e8\" data-index=\"1\" style=\"float: none; margin:0px 0 0px 0; text-align:center;\">\n<script async src=\"https:\/\/pagead2.googlesyndication.com\/pagead\/js\/adsbygoogle.js\"><\/script>\r\n<!-- MC 2019- Horizontal -->\r\n<ins class=\"adsbygoogle\"\r\n     style=\"display:block\"\r\n     data-ad-client=\"ca-pub-0127150553352455\"\r\n     data-ad-slot=\"3806776041\"\r\n     data-ad-format=\"auto\"\r\n     data-full-width-responsive=\"true\"><\/ins>\r\n<script>\r\n     (adsbygoogle = window.adsbygoogle || []).push({});\r\n<\/script>\n<\/div>\n<p>The diagnosis of cystic fibrosis is based on clinical signs and symptoms consistent with the disease and objective evidence of cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction.<\/p>\n<p class=\"MsoNormal\" style=\"margin-top: 0pt; margin-bottom: 0pt;\">One or more typical phenotypic features of CF:<\/p>\n<ul>\n<li>\n<p class=\"MsoNormal\" style=\"margin-top: 0pt; margin-bottom: 0pt;\">Chronic sinopulmonary disease<\/p>\n<\/li>\n<li>\n<p class=\"MsoNormal\" style=\"margin-top: 0pt; margin-bottom: 0pt;\">Characteristic gastrointestinal and nutritional abnormalities<\/p>\n<\/li>\n<li>\n<p class=\"MsoNormal\" style=\"margin-top: 0pt; margin-bottom: 0pt;\">Salt loss syndromes<\/p>\n<\/li>\n<li>\n<p class=\"MsoNormal\" style=\"margin-top: 0pt; margin-bottom: 0pt;\">Obstructive azoospermia<\/p>\n<\/li>\n<\/ul>\n<p class=\"MsoNormal\" style=\"margin-top: 0pt; margin-bottom: 0pt;\"><strong> or<\/strong><\/p>\n<p><!--more--><\/p>\n<p class=\"MsoNormal\" style=\"margin-top: 0pt; margin-bottom: 0pt;\">A history of cystic fibrosis in a sibling<\/p>\n<p class=\"MsoNormal\" style=\"margin-top: 0pt; margin-bottom: 0pt;\"><strong> or<\/strong><\/p>\n<p class=\"MsoNormal\" style=\"margin-top: 0pt; margin-bottom: 0pt;\">A positive newborn screening test<\/p>\n<p class=\"MsoNormal\" style=\"margin-top: 0pt; margin-bottom: 0pt;\"><strong> PLUS<\/strong><\/p>\n<p class=\"MsoNormal\" style=\"margin-top: 0pt; margin-bottom: 0pt;\">An elevated sweat chloride concentration (greater than 60 meq\/L) on two or more occasions<\/p>\n<p class=\"MsoNormal\" style=\"margin-top: 0pt; margin-bottom: 0pt;\"><strong> or <\/strong><\/p>\n<p class=\"MsoNormal\" style=\"margin-top: 0pt; margin-bottom: 0pt;\">Identification of mutations in each cystic fibrosis transmembrane conductance regulator (CFTR) protein gene known to cause CF<\/p>\n<p class=\"MsoNormal\" style=\"margin-top: 0pt; margin-bottom: 0pt;\"><strong> or<\/strong><\/p>\n<p class=\"MsoNormal\" style=\"margin-top: 0pt; margin-bottom: 0pt;\">In vivo demonstration of characteristic abnormalities in ion transport across the nasal epithelium<\/p>\n<p>&nbsp;<\/p>\n<p class=\"MsoNormal\" style=\"margin-top: 0pt; margin-bottom: 0pt;\"><strong>Clinical Manifestations of Cystic Fibrosis<\/strong><\/p>\n<p class=\"MsoNormal\" style=\"margin-top: 0pt; margin-bottom: 0pt;\">Respiratory<\/p>\n<ul>\n<li>\n<p style=\"margin-top: 0pt; margin-bottom: 0pt;\">Bronchiolitis \/ asthma<\/p>\n<\/li>\n<li>\n<p style=\"margin-top: 0pt; margin-bottom: 0pt;\">Psudomonas aeruginosa colonization of the respiratory tract<\/p>\n<\/li>\n<li>\n<p style=\"margin-top: 0pt; margin-bottom: 0pt;\">Staphylococcal pneumonia<\/p>\n<\/li>\n<li>\n<p style=\"margin-top: 0pt; margin-bottom: 0pt;\">Nasal polyposis<\/p>\n<\/li>\n<li>\n<p style=\"margin-top: 0pt; margin-bottom: 0pt;\">Sinusitis<\/p>\n<\/li>\n<\/ul>\n<p class=\"MsoNormal\" style=\"margin-top: 0pt; margin-bottom: 0pt;\">Gastrointestinal<\/p>\n<ul>\n<li>\n<p style=\"margin-top: 0pt; margin-bottom: 0pt;\">Meconium ileus<\/p>\n<\/li>\n<li>\n<p style=\"margin-top: 0pt; margin-bottom: 0pt;\">Rectal prolapse<\/p>\n<\/li>\n<li>\n<p style=\"margin-top: 0pt; margin-bottom: 0pt;\">Recurrent abdominal pain and\/or right lower quadrant mass<\/p>\n<\/li>\n<li>\n<p style=\"margin-top: 0pt; margin-bottom: 0pt;\">Hypoproteinemic edema<\/p>\n<\/li>\n<li>\n<p style=\"margin-top: 0pt; margin-bottom: 0pt;\">Prolonged neonatal jaundice<\/p>\n<\/li>\n<li>\n<p style=\"margin-top: 0pt; margin-bottom: 0pt;\">Biliary cirrhosis with portal hypertension<\/p>\n<\/li>\n<li>\n<p style=\"margin-top: 0pt; margin-bottom: 0pt;\">Vitamin deficiency states (A, D, E, K)<\/p>\n<\/li>\n<li>\n<p style=\"margin-top: 0pt; margin-bottom: 0pt;\">Acrodermatitis enterophatica-like eruption with fatty acid and zinc deficiency<\/p>\n<\/li>\n<li>\n<p style=\"margin-top: 0pt; margin-bottom: 0pt;\">Recurrent pancreatitis<\/p>\n<\/li>\n<li>\n<p style=\"margin-top: 0pt; margin-bottom: 0pt;\">Volvulus in fetal life<\/p>\n<\/li>\n<\/ul>\n<p class=\"MsoNormal\" style=\"margin-top: 0pt; margin-bottom: 0pt;\">Genitourinary<\/p>\n<ul>\n<li>\n<p style=\"margin-top: 0pt; margin-bottom: 0pt;\">Congenital bilateral absence of the vas deferens (CBAVD)<\/p>\n<\/li>\n<li>\n<p style=\"margin-top: 0pt; margin-bottom: 0pt;\">Male infertility<\/p>\n<\/li>\n<li>\n<p style=\"margin-top: 0pt; margin-bottom: 0pt;\">Female infertility<\/p>\n<\/li>\n<\/ul>\n<p class=\"MsoNormal\" style=\"margin-top: 0pt; margin-bottom: 0pt;\">Other<\/p>\n<ul>\n<li>\n<p style=\"margin-top: 0pt; margin-bottom: 0pt;\">Hypochloremic, hyponatremic alkalosis<\/p>\n<\/li>\n<li>\n<p style=\"margin-top: 0pt; margin-bottom: 0pt;\">Mother of child with cystic fibrosis<\/p>\n<\/li>\n<li>\n<p style=\"margin-top: 0pt; margin-bottom: 0pt;\">Pseudotumor cerebri<\/p>\n<\/li>\n<\/ul>\n<div class=\"Section1\">\n<div class=\"Section1\">\n<div class=\"Section1\">\n<div class=\"Section1\">\n<div class=\"Section1\">\n<p>&nbsp;<\/p>\n<p class=\"MsoNormal\"><strong>References:<\/strong><\/p>\n<div class=\"Section1\">\n<ol>\n<li>Welsh MJ, Ramsey BW, Accurso FJ, Cutting GR. Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001:5121-88.<\/li>\n<li>Welsh MJ, Fick RB. Cystic fibrosis. J Clin Invest. 1987 Dec;80(6):1523-6.\u00a0<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/3316277\/\" target=\"_blank\" rel=\"noopener\">[Medline]<\/a><\/li>\n<li>Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr. 1998 Apr;132(4):589-95.\u00a0<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/9580754\/\" target=\"_blank\" rel=\"noopener\">[Medline]<\/a><\/li>\n<\/ol>\n<p>&nbsp;<\/p>\n<\/div>\n<div class=\"Section1\">Created: March 24, 2006<\/div>\n<div class=\"Section1\"><\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<p><\/p>\n\n<div style=\"font-size: 0px; height: 0px; line-height: 0px; margin: 0; padding: 0; clear: both;\"><\/div>","protected":false},"excerpt":{"rendered":"<p>Sorry, this entry is only available in Espa\u00f1ol.<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_lmt_disableupdate":"","_lmt_disable":"","_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"footnotes":""},"categories":[441],"tags":[1801,16,15,1800,14,236,1799,1344,667,1802],"class_list":["post-66","post","type-post","status-publish","format-standard","hentry","category-pediatrics","tag-cf","tag-criteria","tag-criterios","tag-cystic","tag-diagnostic","tag-fibrosis","tag-fqp","tag-infectious","tag-pediatrics","tag-quistica"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - 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