Is NPD a common disease

Tab. 3 Diagnostic algorithm for CF and CFTR-dependent diseasesa. (Mod. According to [4, 5])

Suspected clinical diagnosis of cystic fibrosis
→ sweat test andCFTR-Mutation analysis: test for common CFTR variants Two pathogens CFTR Mutations (AA)b and chloride concentration in the sweat test> 60 mmol / l Diagnosis CF No (- -) or one (A -) pathogenic CFTR mutation and chloride concentration in the sweat test 30–60 mmol / l
or
a pathogenic one CFTR-Mutation (A -) and chloride concentration in the sweat test <30 mmol / l
CFTR-Mutation analysis: test for rare CFTR-Variants / gene sequencing Two pathogens CFTR Mutations (AA) present Diagnosis CF A pathogenic one CFTRMutation and one CFTR-Variant of unknown clinical significance (AD)
→ Functional analysis CFTR: NPD / ICMd NPD / ICM shows CFTR dysfunction Diagnosis CF NPD / ICM does not show CFTR dysfunction No CF a pathogenic one CFTR-Mutation and a variant associated with CFTR-dependent disease (AB)
or
two variants associated with CFTR-dependent disease (BB) Diagnosis CFTR-RD No (- -) or one (A―) pathogenic CFTR-Mutation
or no (- -) or a (B -) variant associated with CFTR-dependent disease
→ Functional analysis CFTR: NPD / ICMd NPD / ICM shows CFTR dysfunction Diagnosis CF or CFTR-RD NPD / ICM does not show CFTR dysfunction
and a pathogenic one CFTR-Mutation (A―) or a variant associated with CFTR-dependent disease (B-)
and Chloride concentration in the sweat test 30–60 mmol / l Subject not classifiablec NPD / ICM does not show CFTR dysfunction
and none (- -) or one (A -) pathogenic CFTRMutation or
no (- -) or a (B -) variant associated with CFTR-dependent disease
and Chloride concentration in the sweat test <30 mmol / l No CF Not pathogenic CFTR-Mutation (- -) and chloride concentration in the sweat test <30 mmol / l
and male infertility and / or CBAVD and / or pancreatitis and / or bronchiectasis present
requires further diagnostic procedures according to [4] such as andrological evaluation, mutation analysis of the genes SPINK1, PRSS 1, CTRC
→ Functional analysis CFTR: NPD / ICMdandCFTR-Mutation analysis: test for rare CFTR-Variants / gene sequencing NPD / ICM shows CFTR dysfunction Diagnosis CF or CFTR-RD NPD / ICM does not show CFTR dysfunction not pathogenic CFTR-Mutation (- -) No CF, CFTR-RD unlikely A pathogenic one CFTR-Mutation (A -) or a variant associated with CFTR-dependent disease (B -) Diagnosis CFTR-RD