The patient subsequently developed hydrocephalus requiring a ventriculoperitoneal shunt, complicated by refractory ascites that resolved with acetazolamide therapy. Awareness of the potential disease spectrum through early molecular diagnosis, combined with a comprehensive immunologic evaluation, enabled individualized management via closer clinical monitoring and timely interventions to prevent and control neurological and infectious complications. This case highlights the phenotypic heterogeneity of PIK3CA pathogenic variants and the importance of early precision medicine in pediatric care.
The patient was started on a low phosphate diet, sevelamer, and acetazolamide and was instructed to avoid calcium and vitamin D supplements. Intravenous Zoledronic Acid was also given. The patient reported improvement in his symptoms in the follow-up visits.
In anticancer assays, compound 4p (SI = 10.55) was about twice as effective as sorafenib (SI = 5.34), and in enzyme inhibition, it showed ~1.5-fold greater potency than acetazolamide. Additionally, pharmacokinetic predictions indicated excellent drug-like properties for 4p, including high permeability, oral absorption, and adherence to Lipinski's rule. These findings highlight compound 4p as a promising candidate for an anticancer agent targeting key enzymes involved in lung cancer progression.
Recombinant-enzyme assays validated these predictions: SB-203207, SB-203208 and sulfadixiamycin A inhibited CA IX esterase activity with IC₅₀ = 73 ± 1, 99 ± 2, and 114 ± 3 nM, respectively, versus 41 ± 1 nM for reference acetazolamide...SwissADME/ADMETlab profiling highlighted SB-203207 as the most developable hit. Together, these results establish entrance-channel plugging as an alternative mechanism for CA IX inhibition, identify SB-203207 as a potent and isoform-selective lead.
Herein, we demonstrate selective diagnosis and chemodynamic therapy in triple negative breast cancer (TNBC) cells by carbonic anhydrase-IX targeted acetazolamide-functionalized copper-doped carbon dots (CuCD-Az). CuCD-Az showed ∼3-fold higher cytotoxicity to TNBC compared to normal cells by ROS-mediated apoptosis via Fenton-like reaction.