{"id":7382,"date":"2020-02-27T20:34:14","date_gmt":"2020-02-27T20:34:14","guid":{"rendered":"https:\/\/medicalcriteria.com\/web\/?p=7382"},"modified":"2026-01-09T19:17:01","modified_gmt":"2026-01-09T19:17:01","slug":"cystic-fibrosis","status":"publish","type":"post","link":"https:\/\/medicalcriteria.com\/web\/cystic-fibrosis\/","title":{"rendered":"Diagnostic Criteria for Cystic Fibrosis"},"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>Cystic Fibrosis (CF) is a multisystem disorder caused by mutations in the gene for the CF transmembrane conductance regulator (CFTR), which encodes an ion channel protein, with more than 2000 mutations identified to date. A diagnosis of CF initially relied on phenotype, with clinical recognition of characteristic signs and symptoms.<!--more--><\/p>\n<p><strong>Diagnostic Criteria for Cystic Fibrosis<\/strong><\/p>\n<p>BOTH of the following criteria must be met to diagnose cystic fibrosis (CF):<\/p>\n<ul>\n<li>Clinical symptoms consistent with CF in at least one organ system, or positive newborn screen or genetic testing for siblings of patients with CF<\/li>\n<\/ul>\n<p style=\"padding-left: 40px;\">AND<\/p>\n<ul>\n<li>Evidence of cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction (any of the following):\n<ul style=\"list-style-type: circle;\">\n<li>Elevated sweat chloride \u226560 mmol\/L<\/li>\n<li>Presence of two disease-causing variants in CFTR, one from each parental allele<\/li>\n<li>Abnormal nasal potential difference<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>The accuracy of sweat chloride and nasal potential difference measurements are operator-dependent, so it is critical that testing be performed in experienced centers, following standard guidelines.<\/p>\n<p>&nbsp;<\/p>\n<p><strong>References:<\/strong><\/p>\n<ol>\n<li>Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N, Howenstine M, McColley SA, Rock M, Rosenfeld M, Sermet-Gaudelus I, Southern KW, Marshall BC, Sosnay PR. Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation.\u00a0J Pediatr. 2017 Feb;181S:S4-S15.e1. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/28129811\/\" target=\"_blank\" rel=\"noopener noreferrer\">[Medline]<\/a><\/li>\n<li>Castellani C, Duff AJA, Bell SC, Heijerman HGM, Munck A, Ratjen F, Sermet-Gaudelus I, Southern KW, Barben J, Flume PA, Hodkov\u00e1 P, Kashirskaya N, Kirszenbaum MN, Madge S, Oxley H, Plant B, Schwarzenberg SJ, Smyth AR, Taccetti G, Wagner TOF, Wolfe SP, Drevinek P. ECFS best practice guidelines: the 2018 revision. J Cyst Fibros. 2018 Mar;17(2):153-178. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/29506920\/\" target=\"_blank\" rel=\"noopener noreferrer\">[Medline]<\/a><\/li>\n<li>Ong T, Ramsey BW. Cystic Fibrosis: A Review. JAMA. 2023 Jun 6;329(21):1859-1871. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/37278811\/\" target=\"_blank\" rel=\"noopener\">[Medline]<\/a><\/li>\n<\/ol>\n<p>&nbsp;<\/p>\n<p>Created Feb 27, 2020.<br \/>\nUp-date Jan 09, 2026.<\/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":"open","sticky":false,"template":"","format":"standard","meta":{"_lmt_disableupdate":"no","_lmt_disable":"no","_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"footnotes":""},"categories":[441],"tags":[16,15,1800,14,13,236,1802],"class_list":["post-7382","post","type-post","status-publish","format-standard","hentry","category-pediatrics","tag-criteria","tag-criterios","tag-cystic","tag-diagnostic","tag-diagnostico","tag-fibrosis","tag-quistica"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - 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