HHMA represents an early and clinically significant manifestation in both cwCF and cwCFTR-RD. Clearer acknowledgment of HHMA as a manifestation of CFTR-RD within guidelines is crucial for improving diagnostic clarity and guiding appropriate management decisions. Salt supplementation, family education, and long-term follow-up are essential components of care for both groups. Furthermore, limited access to CFTR functional assays and the ineligibility of one-third of cwCF for current modulators together show the ongoing diagnostic and therapeutic gaps.
Yavuz et al. (Sun,) studied this question.