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Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2
We report a single family with diverse renal phenotypes associated with PAX2 mutation. The proband presented steroid-resistant focal segmental glomerulosclerosis with optic coloboma, whereas his two sons showed severe renal hypoplasia with end-stage renal disease, with or without optic coloboma. In all three cases, a heterozygous PAX2 genetic mutation was identified (exon 2; NM_003987.3:c.76dupG, p.Val26Glyfs*28). Based on histopathological findings of the proband, we hypothesized that autophagic dysfunction was associated with the pathophysiology of the focal segmental glomerulosclerosis with PAX2 mutation. Detailed fundu...
Source: Case Reports in Nephrology and Dialysis - April 13, 2016 Category: Urology & Nephrology Source Type: research

Treatment of Focal Segmental Glomerulosclerosis Recurrence in the Renal Allograft: A Report of Two Cases
We present two patients with FSGS recurrence in their allograft kidneys diagnosed by biopsy after significant proteinuria developed in the posttransplant setting. Treatment with therapeutic plasma exchange induced long-term remission in both patients. Spot urine protein:creatinine ratios were monitored and treatment was continued until a target of (Source: Case Reports in Nephrology and Dialysis)
Source: Case Reports in Nephrology and Dialysis - March 29, 2016 Category: Urology & Nephrology Source Type: research

Brown Tumors: A Case Report and Review of the Literature
Brown tumors are focal bone lesions, encountered in patients with uncontrolled hyperparathyroidism. They can be located in any part of the skeleton. Clinically significant lesions in the craniofacial bones are rare. Craniofacial involvement may cause facial disfiguration and compromise social ease of the patient and normal functions, such as chewing, talking, and breathing. In this case report, we present a patient with a brown tumor of the craniofacial bones provoked by secondary hyperparathyroidism and review the last 10 years of craniofacial brown tumors associated with secondary hyperparathyroidism in the English liter...
Source: Case Reports in Nephrology and Dialysis - March 17, 2016 Category: Urology & Nephrology Source Type: research

Two Cases of Hypophosphatemia with Increased Renal Phosphate Excretion in Legionella Pneumonia
We encountered 2 cases of hypophosphatemia due to Legionella pneumonia. Both cases showed increased urinary phosphate excretion and renal tubular dysfunction, which ameliorated with recovery from Legionella pneumonia. Serum fibroblast growth factor-23 level was suppressed, whereas serum 1,25(OH)2 vitamin D and parathyroid hormone levels were normal. Delayed elevation of serum 1,25(OH)2 vitamin D levels was observed with improvement in renal tubular function. These findings suggested hypophosphatemia might be mediated by renal tubular dysfunction.Case Rep Nephrol Dial 2016;6:40-45 (Source: Case Reports in Nephrology and Dialysis)
Source: Case Reports in Nephrology and Dialysis - March 17, 2016 Category: Urology & Nephrology Source Type: research

Treatment of Kidney Stone in a Kidney-Transplanted Patient with Mini-Percutaneous Laser Lithotripsy: A Case Report
We report a case of a kidney-transplanted patient with urolithiasis treated with mini-percutaneous laser lithotripsy. The patient presented with renal dysfunction and graft hydronephrosis. Diagnostic procedures revealed ureterolithiasis as a cause of obstruction, and percutaneous nephrostomy was inserted as a temporary solution. Before surgery, the stone migrated to the renal pelvis. Mini-percutaneous laser lithotripsy was successfully performed, and during surgery, all stone fragments were removed. Six months after successful treatment, the patient has good functioning and stone-free graft.Case Rep Nephrol Dial 2016;6:26-...
Source: Case Reports in Nephrology and Dialysis - March 3, 2016 Category: Urology & Nephrology Source Type: research

Acute Respiratory Distress Syndrome and Posterior Reversible Encephalopathy Syndrome following Rituximab Therapy
We report a case of concomitant ARDS and PRES developing after rituximab therapy for treatment of cryoglobulinaemic vasculitis. There are 7 reported cases of PRES complicating rituximab use. PRES onset varied from immediate to 21 days after administration. All patients recovered completely, and rituximab was reintroduced in half of the cases. The occurrence of ARDS in association with rituximab is rarer. Only 3 confirmed cases exist, and ARDS may occur as a delayed reaction.Case Rep Nephrol Dial 2016;6:32-39 (Source: Case Reports in Nephrology and Dialysis)
Source: Case Reports in Nephrology and Dialysis - February 24, 2016 Category: Urology & Nephrology Source Type: research

Successful Image-Guided Retrieval of an Embolized Fragment of a Fractured Haemodialysis Catheter Tip from the Pulmonary Artery
Conclusion: Haemodialysis catheter fracture with distal embolization is a rare complication in both adults and children and is usually associated with prolonged use and catheter fatigue. Retrieval of the embolized fragment should always be attempted to prevent possible complications. Awareness of this potential complication is important to facilitate diagnosis and management.Case Rep Nephrol Dial 2016;6:21-25 (Source: Case Reports in Nephrology and Dialysis)
Source: Case Reports in Nephrology and Dialysis - February 2, 2016 Category: Urology & Nephrology Source Type: research

Nephrotic Syndrome without Hematuria due to Infection-Related Glomerulonephritis Mimicking Minimal-Change Disease in a Child
Nephrotic syndrome without hematuria due to infection-related glomerulonephritis is uncommon. The present report describes a case of nephrotic syndrome due to infection-related glomerulonephritis without hematuria and hypertension in an older child. A 14-year-old boy was referred to our hospital because of a 5-day history of fever, nausea, weight gain and recent leg edema without hypertension. Laboratory data showed nephrotic-range proteinuria, hypoalbuminemia, mild hypocomplementemia and acute renal injury without hematuria. Although, due to the clinical presentation, minimal-change nephrotic syndrome was mostly suspected...
Source: Case Reports in Nephrology and Dialysis - January 15, 2016 Category: Urology & Nephrology Source Type: research

Benefits of the Nephros Dual Stage Ultrafilter in Chronic Hemodialysis Patients: Evidence for Improved ESA Responsiveness
In conclusion, the use of the Nephros DSU to further reduce endotoxin exposure in chronic hemodialysis patients can result in improved erythropoiesis-stimulating agent (ESA) responsiveness and a lower ESA dose.Case Rep Nephrol Dial 2016;6:8-13 (Source: Case Reports in Nephrology and Dialysis)
Source: Case Reports in Nephrology and Dialysis - January 14, 2016 Category: Urology & Nephrology Source Type: research

Successful Treatment of Dual-Positive Anti-Myeloperoxidase and Anti-Glomerular Basement Membrane Antibody Vasculitis with Pulmonary-Renal Syndrome
Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis and anti-glomerular basement membrane (GBM) disease are two separate diseases, while sometimes they can coexist together. The exact mechanisms are not clear, but due to the rapid progression and poor prognosis, prompt and aggressive treatment is usually required. We treated with steroids combined with cyclophosphamide and rituximab an 84-year-old man with ANCA-associated vasculitis and anti-GBM disease who had prior pulmonary fibrosis and a coexisting anterosuperior mediastinal mass. Conventional therapy including steroids, plasmapheresis and cyclophosphamide...
Source: Case Reports in Nephrology and Dialysis - January 11, 2016 Category: Urology & Nephrology Source Type: research

Macrophage Infiltration into the Glomeruli in Lipoprotein Glomerulopathy
Lipoprotein glomerulopathy (LPG) is characterized by histopathological features showing intra-glomerular lipoprotein thrombi and type III hyperlipoproteinemia (HLP), with heterozygote mutation of apolipoprotein (apo) E gene. On the other hand, as another renal lipidosis with type III HLP, apoE2 homozygote-related glomerulopathy (apoE2-GN) showing foamy macrophages has been reported. The case of a 25-year-old man who had LPG by clinical behavior and gene analysis, but demonstrated atypical histopathological features with a substantial amount of foamy macrophage infiltration in the glomeruli, is presented. The combination of...
Source: Case Reports in Nephrology and Dialysis - December 15, 2015 Category: Urology & Nephrology Source Type: research

Glomerulocystic Kidney Disease and Hepatoblastoma in an Infant: A Rare Presentation
We report the simultaneous presentation of hepatoblastoma and GCKD in a 5-month-old child and explore the probability of insulin-like growth factors, insulin-like growth factor-binding protein and Beckwith-Wiedemann gene mutation as a putative cause.Case Rep Nephrol Dial 2015;5:200-203 (Source: Case Reports in Nephrology and Dialysis)
Source: Case Reports in Nephrology and Dialysis - November 13, 2015 Category: Urology & Nephrology Source Type: research

Two Types of Renovascular Lesions in Lupus Nephritis with Clinical Thrombotic Thrombocytopenic Purpura
Renovascular lesions of lupus nephritis (LN) were classified into five categories by D'Agati in Heptinstall's Pathology of the Kidney, with thrombotic microangiopathy (TMA) and clinical thrombotic thrombocytopenic purpura (TTP) being combined. We encountered 2 cases with histological LN (class III and lass V), and they presented with clinical features of TTP, such as acute renal failure, microangiopathic hemolytic anemia, thrombocytopenia, fever, and central neurologic symptoms. Immunosuppressive therapy with plasmapheresis was performed in both patients. Case 1 progressed to end-stage renal failure requiring dialysis and ...
Source: Case Reports in Nephrology and Dialysis - October 10, 2015 Category: Urology & Nephrology Source Type: research

Reversible Ceftriaxone-Induced Pseudolithiasis in an Adult Patient with Maintenance Hemodialysis
Ceftriaxone (CTRX) is a third-generation cephalosporin widely used for the treatment of bacterial infections in patients with renal disease because of its excretion by both renal and hepatic mechanisms. Biliary pseudolithiasis is a known CTRX-associated complication; however, there have been no studies of this adverse event in adult patients receiving maintenance hemodialysis. Here we report the case of a 79-year-old Japanese woman with end-stage renal disease (ESRD) receiving maintenance hemodialysis who developed CTRX-induced pseudolithiasis. The patient received CTRX for bronchial pneumonia. Fifteen days following CTRX ...
Source: Case Reports in Nephrology and Dialysis - September 19, 2015 Category: Urology & Nephrology Source Type: research

Progression of Monoclonal Gammopathy with Undetermined Significance to Multiple Myeloma Diagnosed by Kidney Biopsy: A Case Report
We report a case of 62-year-old female patient showing MGUS progression to multiple myeloma without significant changes in M-protein but diagnosed by kidney biopsy. During the follow-ups, azotemia and tubular proteinuria were aggravated without elevation of M-protein. Kidney biopsy showed intratubular and glomerular inclusions associated with plasma cell dysplasia. The progression of MGUS to multiple myeloma was diagnosed by this kidney biopsy. The patient's renal function and tubular proteinuria were markedly improved after chemotherapy.Case Rep Nephrol Dial 2015;5:180-186 (Source: Case Reports in Nephrology and Dialysis)
Source: Case Reports in Nephrology and Dialysis - September 1, 2015 Category: Urology & Nephrology Source Type: research