IllnessCystische Fibrose, Differentialdiagnose

NGS +

[Sanger]

Cystic fibrosis (CF), when fully developed, is associated with severe affections of the lungs, intestinal tract and all exocrine glands. In CF patients, the glandular secretions are thickened obstructing the draining passages, especially in the lungs and pancreas. Yet CF symptoms can vary considerably, so that individual patients are not diagnosed until adulthood or the disease only leads to infertility in males (Congenital Bilateral Aplasia of the Vas deferens; CBAVD). On the other hand, first signs of the disease may already appear at birth. Differential diagnosis includes a wide range of diseases with very different symptoms: general failure to thrive and grow, dysphagia with aspiration or gastroesophageal reflux. gastroesophageal reflux, immunodeficiency syndromes, asthma, bronchiectasis, primary ciliary dyskinesia, Shwachman-Diamond syndrome (pancreatic dysfunction, hematologic/cytopenic symptoms), biliary congestion, obstructive azoospermia, etc. Consequently, a comprehensive gene panel is available for CF differential diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1250/

• Agammaglobulinemia 7, AR (PIK3R1)
• Alias: Mucoviscidosis
• Alias: Mukoviszidose
• Alias: Zystische Fibrose
• Allelic: Aplastic anemia, susceptibility to (SBDS)
• Allelic: Bronchiectasis with/without elevated sweat chloride 1, modifier of (CFTR)
• Allelic: Cone-rod dystrophy, XL, 1 (RPGR)
• Allelic: Congenital bilateral absence of vas deferens (CFTR)
• Allelic: Dyslexia, susceptibility to, 1 (DNAAF4)
• Allelic: Hypertrypsinemia, neonatal (CFTR)
• Allelic: Liddle syndrome 1 (SCNN1B)
• Allelic: Liddle syndrome 2 (SCNN1G)
• Allelic: Liddle syndrome 3 (SCNN1A)
• Allelic: Macular degeneration, XL atrophic (RPGR)
• Allelic: Orofaciodigital syndrome I (OFD1)
• Allelic: Pancreatitis, hereditary (CFTR)
• Allelic: Pseudohypoaldosteronism, type I (SCNN1A)
• Allelic: Pseudohypoaldosteronism, type I (SCNN1B)
• Allelic: Pseudohypoaldosteronism, type I (SCNN1G)
• Allelic: Retinitis pigmentosa 23 (OFD1)
• Allelic: Retinitis pigmentosa 3 (RPGR)
• Allelic: Roifman-Chitayat syndrome, digenic (PIK3CD)
• Allelic: SHORT syndrome (PIK3R1)
• Allelic: Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
• Allelic: Spermatogenic failure 18 (DNAH1)
• Allelic: Spermatogenic failure 43 (SPEF2)
• Allelic: Sweat chloride elevation without CF (CFTR)
• Bronchiectasis with or without elevated sweat chloride 1, modifier of (CFTR)
• Bronchiectasis with or without elevated sweat chloride 3 (SCNN1G)
• Bronchiectasis with/-out elevated sweat chloride 1 (SCNN1B)
• Bronchiectasis with/-out elevated sweat chloride 2 (SCNN1A)
• Ciliary dyskinesia, primary, 1, with/-out situs inversus (DNAI1)
• Ciliary dyskinesia, primary, 10 (DNAAF2)
• Ciliary dyskinesia, primary, 11 (RSPH4A)
• Ciliary dyskinesia, primary, 12 (RSPH9)
• Ciliary dyskinesia, primary, 13 (DNAAF1)
• Ciliary dyskinesia, primary, 14 (CCDC39)
• Ciliary dyskinesia, primary, 15 (CCDC40)
• Ciliary dyskinesia, primary, 16 (DNAL1)
• Ciliary dyskinesia, primary, 17 (CCDC103)
• Ciliary dyskinesia, primary, 18 (DNAAF5)
• Ciliary dyskinesia, primary, 19 (LRCC6)
• Ciliary dyskinesia, primary, 2 (DNAAF3)
• Ciliary dyskinesia, primary, 20 (ODAD1)
• Ciliary dyskinesia, primary, 21 (DRC1)
• Ciliary dyskinesia, primary, 22 (ZMYND10)
• Ciliary dyskinesia, primary, 23 (ODAD2)
• Ciliary dyskinesia, primary, 24 (RSPH1)
• Ciliary dyskinesia, primary, 25 (DNAAF4)
• Ciliary dyskinesia, primary, 26 (CFAP298)
• Ciliary dyskinesia, primary, 27 (CCDC65)
• Ciliary dyskinesia, primary, 28 (SPAG1)
• Ciliary dyskinesia, primary, 29 (CCNO)
• Ciliary dyskinesia, primary, 3, with/-out situs inversus (DNAH5)
• Ciliary dyskinesia, primary, 30 (ODAD3)
• Ciliary dyskinesia, primary, 32 (RSPH3)
• Ciliary dyskinesia, primary, 33 (GAS8)
• Ciliary dyskinesia, primary, 34 (DNAJB13)
• Ciliary dyskinesia, primary, 36, XL (PIH1D3)
• Ciliary dyskinesia, primary, 37 (DNAH1)
• Ciliary dyskinesia, primary, 38 (CFAP300)
• Ciliary dyskinesia, primary, 39 (LRRC56)
• Ciliary dyskinesia, primary, 40 (DNAH9)
• Ciliary dyskinesia, primary, 41 (GAS2L2)
• Ciliary dyskinesia, primary, 42 (MCIDAS)
• Ciliary dyskinesia, primary, 43 (FOXJ1)
• Ciliary dyskinesia, primary, 44 (NEK10)
• Ciliary dyskinesia, primary, 45 (TTC12)
• Ciliary dyskinesia, primary, 48, without situs inversus (NME5)
• Ciliary dyskinesia, primary, 49, without situs inversus (CFAP74)
• Ciliary dyskinesia, primary, 5 (HYDIN)
• Ciliary dyskinesia, primary, 6 (NME8)
• Ciliary dyskinesia, primary, 9, with/-out situs inversus (DNAI2)
• Combined cellular and humoral immune defects with granulomas (RAG1)
• Combined cellular and humoral immune defects with granulomas (RAG2)
• Combined immunodeficiency, XL, moderate (IL2RG)
• Congenital bilateral absence of vas deferens (CFTR)
• Cystic fibrosis (CFTR)
• Hyperchlorhidrosis, isolated (CA12)
• Immunodeficiency 14A, AD (PIK3CD)
• Immunodeficiency 14B, AR (PIK3CD)
• Immunodeficiency 36 (PIK3R1)
• Immunodeficiency, common variable, 10 (NFKB2)
• Immunodeficiency, common variable, 12 (NFKB1)
• Joubert syndrome 10 (OFD1)
• Motile ciliopathy laterality disorder [panelapp] (DAW1)
• Omenn syndrome (RAG1)
• Omenn syndrome (RAG2)
• Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (TAPT1)
• Primary ciliary dyskinesia, asthenoteratozoospermia (BRWD1)
• Respiratory infections, recurrent, failure to thrive +/- diarrhea (AGR2)
• Retinitis pigmentosa, XL, sinorespiratory infections +/- deafness (RPGR)
• Severe combined immunodeficiency, B cell-negative (RAG1)
• Severe combined immunodeficiency, B cell-negative (RAG2)
• Severe combined immunodeficiency, XL (IL2RG)
• Shwachman-Diamond syndrome (SBDS)
• Spermatogenic failure 46 (DNAH8)
• Sweat chloride elevation without CF (CFTR)
• a/b T-cell lymphopenia, g/d T-cell expansion, severe cytomegalovirus infection, autoimmunity (RAG1)