Klinische FragestellungCystische Fibrose, Differentialdiagnose

NGS +

[Sanger]

Die cystische Fibrose (CF; Mukoviszidose) geht bei voller Ausprägung mit schweren Affektionen der Lungen, des Intestinal-Trakts und aller exokrinen Drüsengewebe einher. Bei CF-Patienten ist das Drüsensekret eingedickt und verstopft die abführenden Passagen, besonders in Lunge und Pankreas. Die CF-Symptome können aber stark variieren, sodass einzelne Patienten erst im Erwachsenenalter diagnostiziert werden oder nur zur Infertilität bei Männern führen (Congenitale bilaterale Aplasie des Vas deferens; CBAVD). Erste Krankheitszeichen können andererseits bereits bei Geburt aufscheinen. Differentialdiagnostisch ist eine breite Palette von verschiedenen Erkrankungen mit teils sehr unterschiedlicher Symptomatik einzubeziehen: allgemeine Gedeih- und Wachstums- Störungen, Dysphagie mit Aspiration bzw. gastroösophagealem Reflux, Immundefizienz-Syndrome, Asthma, Bronchiektasen, primäre Ziliendyskinesie, Shwachman-Diamond-Syndrom (Pankreas-Dysfunktion, hämatologische/Zytopenie-Symtome), Gallen(gang)-Stau sowie obstruktive Azoospermie etc. Demzufolge wird für die CF-Differentialdiagnostik ein vergleichsweise umfangreiches Gen panel vorgehalten.

Referenz: 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)