ABSTRACT
Background: snake envenomation is a serious healthcare issue. Daboia palaestinae is an endemic species to the Middle East that is responsible for the majority of envenomation cases with serious health issue consequences. Case Presentation: we report a case of a 20-year-old Palestinian man who presented to emergency room following a snake bite. He developed atrial fibrillation which is a rare but serious complication of D. palaestinae snakebite. We reviewed the proper approach and management to such cases. Conclusion: cardiac arrhythmias are a rare but serious, often fatal, complication of snake envenomation. Early detection and proper management is key to avoid morbidity and mortality.
ABSTRACT
We have analyzed the human mineralocorticoid receptor (hMR) gene in 14 families with autosomal dominant or sporadic pseudohypoaldosteronism (PHA1), a rare form of mineralocorticoid resistance characterized by neonatal renal salt wasting and failure to thrive. Six heterozygous mutations were detected. Two frameshift mutations in exon 2 (insT1354, del8bp537) and one nonsense mutation in exon 4 (C2157A, Cys645stop) generate truncated proteins due to premature stop codons. Three missense mutations (G633R, Q776R, L979P) differently affect hMR function. The DNA binding domain mutant R633 exhibits reduced maximal transactivation, although its binding characteristics and ED(50) of transactivation are comparable with wild-type hMR. Ligand binding domain mutants R776 and P979 present reduced or absent aldosterone binding, respectively, which is associated with reduced or absent ligand-dependent transactivation capacity. Finally, P979 possesses a transdominant negative effect on wild-type hMR activity, whereas mutations G633R and Q776R probably result in haploinsufficiency in PHA1 patients. We conclude that hMR mutations are a common feature of autosomal dominant PHA1, being found in 70% of our familial cases. Their absence in some families underscores the importance of an extensive investigation of the hMR gene and the role of precise diagnostic procedures to allow for identification of other genes potentially involved in the disease.
