Introduction: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessive disorder characterized by renal magnesium wasting, hypercalciuria, and early onset of nephrocalcinosis, complicated by progressive chronic renal failure in childhood or adolescence. The disorder is caused by CLDN16 or CLDN19 genes’ pathogenic variants. Case Presentation: We describe a 22-year-old female patient with a clinical diagnosis of FHHNC in infancy. Detailed clinical evaluation revealed a complex phenotype with early nephrocalcinosis, recurrent self-resolving renal colic episodes, persistent hypomagnesemia, and secondary hyperparathyroidism (HPP). High oral doses of magnesium were required to treat the FHHNC, causing significant gastrointestinal side effects, particularly diarrhea, leading to further magnesium losses. Upon transfer to our adult nephrology unit, the proband’s blood was subjected to genetic analysis using next-generation sequencing with multigene panel testing. Results: Genetic analysis of the proband revealed compound heterozygous variants in the CLDN16 gene: a novel splice-site variant NC_000003.12 (NM_006580.4):c.382+1G>C in the canonical donor splice consensus sequence, classified as likely pathogenic inherited from the mother with HPP phenotype; a rare missense variant NM_006580.4:c.500G>C p.(Trp167Ser) inherited from the father with hypercalciuria. Due to poor tolerability of conventional oral magnesium salts, she was switched to a Sucrosomial magnesium formulation, which significantly improved her gastrointestinal tolerance and adherence. Conclusion: The novel splice-site variant c.382+1G>C and the previously unreported missense variant p.(Trp167Ser) in CLDN16 expand the mutational spectrum associated with FHHNC. Regarding the mother’s phenotype, a symptomatic carrier of a recessive autosomal disease, our finding suggests the importance of genotype-phenotype analysis in identifying mild forms of FHHNC.
Viper envenomation is ideally treated with antivenoms. However, in severe cases or when circulating toxins persist, extracorporeal techniques may be useful. Viper venom may be susceptible to elimination by hemoadsorption. We describe five cases of severe pit viper envenomation treated with hemoadsorption combined with hemodialysis or hemodiafiltration after receiving doses of antivenom. All patients received antivenom, however, with a poor outcome and clinical complications. Four patients had acute kidney injury and elevated creatine phosphokinase, all patients had metabolic acidosis. Three patients developed coagulopathy and one patient showed signs of neurotoxicity and toxic myopathy and underwent mechanical ventilation for five days. Due to the severity of the envenomation and the complications observed the patients were treated with hemoadsorption combined with hemodialysis or hemodiafiltration after the application of antivenoms. Neurotoxicity and coagulopathy were resolved. However, thrombocytopenia was observed in 4 patients after hemoadsorption treatment. The patients had recovery of kidney function at discharge. After the hemoadsorption, a decrease in venom levels was observed in 4 patients. Hemoadsorption may be a useful strategy associated with standard treatment that includes antivenoms in patients with viper envenomation.
Introduction: Immunoglobulin A (IgA) nephropathy usually occurs after upper respiratory tract infection. The currently widely accepted pathomechanism involves genetic predisposition, formation of galactose-deficient IgA1, and production of autoantibodies against these IgA, ultimately leading to mesangial deposition of immune complexes. Tubulointerstitial nephritis and uveitis (TINU) syndrome is a rare disease with a suspected autoimmune mechanism, although the exact etiology and pathomechanism are not fully understood. To our knowledge, only a few cases with simultaneous occurrence of these two entities have been reported in common literature so far. Case Presentation: A 53-year-old Ethiopian woman presented with a month of postprandial nausea, vomiting, occipital headache, 5 kilogram weight loss and intermittent night sweats. Laboratory examinations revealed hematuria and impaired renal function, histological findings showed acute tubulointerstitial nephritis and glomerulonephritis. Further assessments revealed left-sided anterior uveitis as well as a Helicobacter pylori and Strongyloides infection. We present the case of a middle-aged woman with concurrent IgA nephropathy and TINU syndrome, possibly following a H. pylori and Strongyloides infection. There was rapid and significant improvement of renal disease after glucocorticoid treatment. Conclusion: Further research is needed to elucidate possible causality between IgA nephropathy, TINU syndrome, and the potential trigger factors involved.
Background Reduced ultrafiltration in peritoneal dialysis (PD) contributes to volume overload, increasing the risk of technique failure and patient mortality. The administration of a sodium–glucose cotransporter 2 inhibitor (SGLT2i) has been shown to increase ultrafiltration volume in mice, suggesting its potential role in improving ultrafiltration. However, whether SGLT2i can improve ultrafiltration and increase urine volume in nondiabetic PD patients remains unclear. Case presentation We report six nondiabetic PD patients with a dialysis history of more than three months who received 10 mg of dapagliflozin once daily orally for six months, in addition to their conventional treatment regimens. After six months, clinically significant increases in ultrafiltration were observed (from 76.8 mL at baseline to 211.3 mL), and five patients showed increased urine volume (from 433.3 mL to 646.7 mL). The glucose concentration in the effluent dialysates was higher than that at baseline. No changes in peritoneal transport characteristics, estimated glomerular filtration rate (eGFR), or residual renal creatinine clearance rate (CCr) were observed at this point compared with baseline. No adverse effects, such as hypoglycemia or abnormal liver function, were reported in any of the patients. Conclusions In this preliminary observation, dapagliflozin use was associated with increased ultrafiltration and urine volume in nondiabetic PD patients and presented a favorable safety profile. Further controlled studies are needed to confirm these preliminary findings.
Introduction: Severe hypertriglyceridemia (HTG) is a well-recognized cause of acute pancreatitis, but its role as a precipitant of acute myocardial infarction (MI) and a barrier to urgent surgical intervention is less frequently documented, especially in patients with end-stage renal disease (ESRD). Case Presentation: We report a unique case of a 68-year-old male on chronic hemodialysis who presented with an inferior wall MI. Coronary angiography revealed severe triple vessel disease necessitating urgent coronary artery bypass grafting (CABG). However, laboratory investigations identified critical HTG (1,943 mg/dL), posing significant risks for hyperviscosity and extracorporeal circuit failure. To mitigate these perioperative risks, the patient underwent four sessions of preoperative therapeutic plasma exchange (TPE), which successfully reduced serum triglycerides to 355 mg/dL. Following this stabilization, the patient underwent a successful off-pump CABG and was managed postoperatively with sustained low-efficiency dialysis. Conclusion: This case highlights the clinical utility of TPE as a rapid and effective “therapeutic bridge” to enable safe, urgent cardiac surgery in patients with severe HTG. It demonstrates that preoperative lipid-lowering aphaeresis can safely manage metabolic barriers to surgery in complex ESRD patients, potentially expanding the management options for high-risk cardiovascular cases where medical therapy alone is insufficient.
