Aug 2026· Zhonghua jie he he hu xi za zhi = Zhonghua jiehe he huxi zazhi = Chinese journal of tuberculosis and respiratory diseases· Vol 49 8, pp.
857-861
· 0 citations
Medicine
TL;DR
This case underscores the importance of recognizing CFTR-RD in patients with multisystem involvement and atypical features of cystic fibrosis, and highlights the value of multidisciplinary evaluation in establishing an accurate diagnosis and developing an individualized treatment strategy.
Pediatric CF is associated with selective alterations in circulating type 3 and regulatory immune responses, characterized by increased IL-22-producing lymphocyte populations, reduced plasma IL-17 A concentrations, and increased numbers of CD3⁺IL-10⁺ cells.
Tugba Nur Gur, Z. B. Azizoğlu, Yesim Haliloğlu et al.· Molecular Biology Reports· 0 citations
Low-phospholipid-associated cholelithiasis (LPAC) syndrome is mainly associated with ABCB4 variants, although up to half of cases remain genetically unexplained. Given the role of CFTR in biliary homeostasis and its involvement in CFTR-related pancreatobiliary disorders, we investigated whether CFTR variants may contri...
Camille Giannetti, L. Carmarans, P. Bourgeois et al.· Journal of Cystic Fibrosis· 0 citations
Chronic pancreatitis (CP) is a clinically heterogeneous condition that may occur with a broad clinical spectrum, including cases of cystic fibrosis (CF), cystic fibrosis transmembrane regulator (CFTR)-related disorder (CFTR-RD), acute recurrent pancreatitis (ARP), and CP, including cases of idiopathic CP (iCP) and here...
Carnovale Vincenzo, Tosco Antonella, Castaldo Alice et al.· International Journal of Mol...· 0 citations
Cystic fibrosis (CF) is associated with impaired innate immune function, including dysfunction of circulating monocytes and macrophages, and is currently classified within group V inborn errors of immunity. Emerging evidence suggests that heterozygous CFTR variants may also contribute to immune dysregulation and in...
Stefan Kotlajić, T. Grba, Gordana Petrović et al.· Journal of Human Immunity· 0 citations
CFTR genotype may influence clinical phenotype in CF patients with ABPA, with trends toward poorer growth and lung function in more severe mutation classes, although larger studies are needed to confirm these associations.
M. F. Ali, Hessa AlOtaibi, Talal Alzahrani et al.· Frontiers in Pediatrics· 0 citations
Background: Genetic testing is an increasingly important component in the diagnostic evaluation of kidney diseases. Pathogenic variants in the HNF1B gene cause a disorder classically known as renal cysts and diabetes (RCAD) syndrome, typically characterised by bilateral renal cysts, diabetes mellitus, and a broad spect...
Filip Koszałka, Aleksandra Gałan, Amir Nour Mohammadi et al.· Journal of Clinical Medicine· 0 citations
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