Case Reports in Nephrology and Dialysis最新文献

Introduction: Anti-glomerular basement membrane (GBM) disease is a rare cause of glomerulonephritis usually mediated by IgG antibodies and is associated with ANCA-associated glomerulonephritis in up to 50% of cases. IgA-mediated anti-GBM disease is extremely rare and presents diagnostic difficulties as circulating IgA antibodies will not be detected by standard serological tests for anti-GBM disease.

Case presentation: We present the case of a 67-year-old man with rapidly progressive glomerulonephritis requiring haemodialysis at presentation. Serological testing was positive for anti-myeloperoxidase and negative for IgG anti-GBM antibodies. Kidney biopsy revealed necrotizing crescentic glomerulonephritis with linear staining of IgA along the GBM. He was treated with a combination of immunosuppression and plasma exchange and was able to become dialysis-independent.

Conclusion: To our knowledge, this is the first documented "double-positive" IgA anti-GBM disease and ANCA-associated glomerulonephritis.

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease, which is mainly caused by pathogenic variants in two particular genes: PKD1 and PKD2. ADPKD caused by variants in other genes (GANAB or IFT140) is very rare.

Case report: In a 6-year-old girl examined for abdominal pain, a cystic mass in the upper part of the right kidney was detected during an abdominal ultrasound. She was referred to pediatric oncology and urology for suspicion of a tumorous mass and the condition was assessed as a cystic nephroma. A heminephrectomy was then performed on the upper cystic part of the right kidney. The histological examination was inconclusive; therefore, genetic testing was recommended. Kidney and liver cysts were detected sonographically in the mother, but DNA analysis of the PKD1 and PKD2 genes did not reveal any pathogenic variant; the cause of the pathological formation in the kidneys remained unclear. Nine years later, next-generation sequencing of a panel of genes for kidney disease was performed and a heterozygous deletion was found on chromosome 16; this included exon 13 of the IFT140 gene. The same deletion was found in the patient's mother. Currently, the patient is 14 years old and has mild sonographic findings, normal glomerular filtration, mild proteinuria, and hypertension.

Conclusion: Pathogenic variants of the IFT140 gene very rarely cause ADPKD; however, they should be considered in all children with autosomal dominant forms of PKD and asymmetric/atypical cystic kidney involvement or negative findings of PKD1 and PKD2.

Introduction: Hemolytic uremic syndrome (HUS) is characterized by progressive kidney injury accompanied by thrombotic microangiopathy, which is clinically defined as microangiopathic hemolytic anemia with thrombocytopenia and organ injury. Shiga toxin-producing Escherichia coli (STEC)-HUS is caused by infection with pathogenic E. coli strains, typically O157, O26, and O111. However, the prevalence of other types of pathogenic E. coli has been increasing, and these pathogens sometimes cause atypical clinical manifestations of STEC-HUS.

Case presentation: We report the case of a 3-year-old girl diagnosed with STEC-HUS associated with a rare O80:H2 stx2 serotype, characterized by an atypical clinical course. She presented with severe hemolytic anemia and mild renal dysfunction but did not have enterohemorrhagic diarrhea. The first culture test of her stool sample collected using a swab upon admission yielded no signs of STEC, leading to an initial diagnosis of atypical HUS; thus, eculizumab was administered adding to red blood cell transfusion and recombinant thrombomodulin alfa and haptoglobin. However, a subsequent culture test of her second stool sample revealed the presence of O80:H2 stx2, confirming the diagnosis of STEC-HUS. Subsequently, the patient's condition improved, and her serum creatinine level gradually normalized over the course of 3 months.

Conclusion: Diligently diagnosis is crucial in cases lacking typical STEC-HUS symptoms. We advocate for repeated stool culture testing to ensure accurate identification and timely management of such cases.

Introduction: Salbutamol is a moderately selective beta-2-adrenergic agonist. Various side effects can occur because of beta-1 and beta-2 receptor activation. Due to the large volume of distribution, it is not considered dialyzable.

Case presentation: A patient with salbutamol intoxication, which developed as a result of a medical error in a patient with sepsis, Down syndrome, and liver cirrhosis, is presented. Initial treatment was partially successful and antibiotic adjustments were made. After his respiratory failure worsened, the patient needed non-invasive ventilation, and previously undiagnosed chronic obstructive pulmonary disease was suspected. He was prescribed intravenous methylprednisolone but accidently received 5 mg of salbutamol (albuterol), which led to immediate severe arrhythmic tachycardia with hemodynamic collapse. After unsuccessful cardioversion and treatment with landiolol infusion, salvage hemodialysis was commenced to decrease suspectedly highly elevated serum salbutamol levels. After 30 min, sinus rhythm with normocardia was observed. After the hemodialysis termination, no rebound tachycardia was noted, but due to severe septic shock, the hypotension was ongoing and vasoactive medications were adjusted. However, the measured levels of plasma salbutamol and data from literature do not support the view that hemodialysis was the cause of the described improvement: the total amount of the drug cleared was very small (2.8% of total dose).

Conclusion: Our results confirm a large volume of salbutamol distribution; the measured levels are within observed therapeutic levels; and the measured half-life time during hemodialysis (3.1 h) is comparable to observed half-life times in therapeutic settings. The observed favorable clinical benefit associated with dialysis may be fortuitous, highlighting potential bias toward positive clinical outcomes and unproven ("salvage") therapies.

Introduction: Emphysematous pyelonephritis is a rare but potentially life-threatening urinary tract infection characterized by the formation of gas in the renal parenchyma, collecting system, and perinephric tissue. The condition typically develops in patients with specific predisposing factors such as diabetes mellitus, congenital or acquired obstructive uropathies, or individuals taking immunosuppressive agents. Rarely can the disease occur in patients with other predisposing factors, such as the use of SGLT2 inhibitors, but this is quite uncommon. The incidence of urinary tract infections associated with their use is still debatable, but cases of emphysematous pyelonephritis associated with SGLT2 inhibitors have been described in medical literature.

Case presentation: We present a rare case of a patient with emphysematous pyelonephritis without classical risk factors for the disease, who was taking an SGLT2 inhibitor.

Conclusion: Although the frequency of urinary tract infections following the use of SGLT2 inhibitors is relatively low, their widespread application for treatment of numerous socially significant diseases underscores the necessity for specialists to be aware with all potential risks associated with their use, including the development of severe urinary tract infections.

Introduction: Acute pancreatitis is an infrequent but challenging cause of peritonitis in peritoneal dialysis (PD). Presentation is often indistinguishable from infectious peritonitis, interpretation of pancreatic enzymes is not straight-forward, and multiple etiologies need to be considered.

Case presentation: A 74-year-old PD patient presented with cloudy dialysate and subtle symptoms of malaise and abdominal pain. WBC was 26,000/µL, CRP was 250 mg/L, and dialysis effluent contained 1,047 leucocytes/μL (90% polymorphs). Infectious peritonitis was presumed, and antibiotic treatment started. However, dialysate cultures remained negative, effluent leucocyte count remained high, and clinical condition deteriorated. Abdominal ultrasound was unremarkable (pancreas not visible). Acute pancreatitis was diagnosed by elevated lipase level (serum: 628 U/L, dialysis fluid: 15 U/L) and CT scan. Disentangling etiological factors was challenging. The patient had gallstones, consumed alcoholic beverages, was recently on doxycycline and dialyzed with icodextrin. In addition, PD treatment itself may have been a contributory factor. Antibiotic therapy was stopped, and PD was temporarily suspended. Systemic and effluent markers of inflammation took 4 weeks to normalize. The patient did not regain his usual state of health until several weeks after discharge. Follow-up CT scan showed considerable pancreatic sequelae.

Conclusion: Acute pancreatitis is an important cause of PD peritonitis. Negative dialysate cultures and unsatisfactory clinical response should trigger evaluation for acute pancreatitis and its multiple potential causes, including PD treatment itself. Serum lipase levels >3 times ULN and elevated dialysis fluid lipase can be expected. Timely performance of imaging is advisable. Prognosis can be poor, and close monitoring is recommended.

Introduction: Xanthogranulomatous pyelonephritis (XGP) is a rare illness that consists of a destructive chronic inflammatory process of the renal parenchyma associated with recurrent infection and obstructions of the urinary tract. Peritoneal dialysis (PD) is a form of renal replacement therapy used in advanced kidney disease. PD patients demonstrate a systemic inflammatory state, secondary to the increase in uremic toxins, decreased filtration of proinflammatory cytokines, as well as constant exposure to bioincompatible dialysis solutions or a foreign body reaction from the catheter, among other factors, as peritoneal infections.

Case presentation: We present the clinical case of a 74-year-old woman, with a history of recurrent urinary tract infections associated with nephrolithiasis and stage 5D chronic kidney disease, on a PD program. The patient presented a non-specific 3-month state of progressive asthenia, with increased inflammatory parameters in the analytical controls. After presenting multiple negative urine cultures and peritoneal fluid cultures, she was hospitalized to study the constitutional syndrome. The imaging test revealed bilateral staghorn lithiasis with severe dilatation of the right renal pelvis and great cortical thinning. Given the suspicion of XGP, it was decided to perform right renal nephrectomy, which was confirmed after the anatomopathological study. Prior to the intervention, she was transferred to hemodialysis. Over the following months, significant clinical and analytical improvement was observed.

Conclusion: The systemic inflammatory state and the risk of infections in PD can mask the diagnosis of XGP in PD patients. There are no reported cases of XGP in patients in PD.

Introduction: Refractory lupus nephritis (LN) causes kidney disease progression and increases the risk of loss of renal function. Due to the high specificity and few side effects of biological agents, they are recommended for the treatment of systemic lupus erythematosus. There are few data on telitacicept for the treatment of refractory LN.

Case presentation: Here, we report the efficacy and safety of telitacicept in the treatment of refractory LN in a 25-year-old female patient. This patient with refractory lupus developed Pneumocystis jirovecii pneumonia while using multitargeted therapy, and the patient's urine protein was rapidly relieved after telitacicept combination with low-dose mycophenolate mofetil (MMF).

Conclusion: This result suggests that telitacicept has a positive effect on refractory LN with no significant side effects. Further reports and a registry are necessary to confirm that telitacicept with low-dose MMF should be preferred in refractory LN.

Introduction: The presence of three different entities in a single patient is usually of clinical interest and mostly anecdotal. The overlap of systemic sclerosis (SSc), Sjögren syndrome (SS), and ANCA-associated renal-limited vasculitis has been reported only once previously.

Case presentation: A 61-year-old female was evaluated at consultation with 2 years of symptomatology, presenting cardboard-like skin, sclerodactyly, limited oral opening, and dry skin and eyes. She was admitted for progressive renal failure (serum creatinine, 5.5 mg/dL). Her serology work-up showed positive anti-SCL-70, anti-Ro, anti-La, anti-MPO, and antinuclear antibodies. Renal biopsy was performed and confirmed histological findings for SSc, SS, and ANCA-associated vasculitis with active extracapillary glomerulonephritis with fibrous predominance (EUVAS-Berden sclerotic class), active tubulointerstitial nephritis, focal tubular injury, and moderate chronic arteriolopathy. Treatment with 6 monthly doses of methylprednisolone and cyclophosphamide was established. At the last follow-up, the patient maintained a stable serum creatinine level of 2.6 mg/dL and had decreased proteinuria, no erythrocyturia, and no requirement for renal replacement therapy.

Conclusion: Systemic sclerosis is a rare autoimmune disease; nevertheless, overlap with Sjögren syndrome is relatively common, although its association with ANCA vasculitis is anecdotal. Diagnostic integration presents a challenge for nephrologists to define the prognosis and a specific treatment.