Case Reports in Nephrology and Dialysis This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Novel Variant of AVPR2 Giving Rise to X-Linked Congenital Nephrogenic Diabetes Insipidus in a 7-Month-Old Danish Boy
We present a Danish male suffering from typical symptoms and diagnosed with CNDI at the age of 7 months. Gene sequencing of this proband and his mother revealed a novel variant in the gene encoding the antidiuretic hormone receptor (AVPR2). The variant is a deletion of nucleotide c.151 in exon 2 ofAVPR2 (GenBank NM_000054.4:c.151del). This 1bp deletion is predicted to cause a frameshift that results in tryptophan replacing valine at position 51 inAVPR2 and a premature stop codon three codons downstream (p.Val51Trpfs*3) likely resulting in faulty expression of the receptor. Identification of disease-causing variants such as...
Source: Case Reports in Nephrology and Dialysis - October 14, 2020 Category: Urology & Nephrology Source Type: research

Neuroblastoma Amplified Sequence Gene Mutations Inducing Acute Kidney and Liver Injury in an Adolescent Female
Acute liver injury (ALI) in children is a life-threatening event, and a definitive etiology can be identified in approximately 50% of cases. Neuroblastoma amplified sequence (NBAS) gene mutations have been associated with a broad phenotypic spectrum of this disease, ranging from recurrent episodes of fever-induced liver injuries to multiorgan involvement, including frequent infections as well as skeletal and immunological abnormalities. Here, we describe an adolescent female with a confirmed compound heterozygous NBAS gene mutation who presented with an episode of ALI complicated by severe acute kidney injury (AKI). The ki...
Source: Case Reports in Nephrology and Dialysis - October 13, 2020 Category: Urology & Nephrology Source Type: research

A Case Demonstrating the Pathological Relationship between Granulomatous Vasculitis and Glomerular Lesion in Renal Sarcoidosis
We experienced a rare case of tubulointerstitial angiocentric granulomatous vasculitis with focal segmental glomerulosclerosis (FSGS) and associated sarcoidosis. Our patient was an 18-year-old man who presented with exertional cough and dyspnea. He also had overt proteinuria (3.0 g/24 h), normal renal function (eGFR 95 mL/min/1.73 m2), heart failure, and hypertension. He had no previous episode of hypertension. These manifestations immediately improved after the administration of antihypertensive therapy that contained an angiotensin-converting enzyme inhibitor, calcium antagonists, beta antagonists, and diuretics. However...
Source: Case Reports in Nephrology and Dialysis - October 12, 2020 Category: Urology & Nephrology Source Type: research

Limited Treatment Options in Primary Hyperoxaluria with Renal Failure
This report details a unique presentation of a rare disease where kidney biopsy was instrumental.Case Rep Nephrol Dial 2020;10:104 –108 (Source: Case Reports in Nephrology and Dialysis)
Source: Case Reports in Nephrology and Dialysis - October 5, 2020 Category: Urology & Nephrology Source Type: research

Multiple Myeloma-Associated Light Chain Amyloidosis and a Proposed Approach to Monoclonal Immunoglobulin-Associated Renal Disease
Many challenges remain in diagnosing monoclonal immunoglobulin-associated renal disease, despite widespread application of immunofluorescence (IF) and immunohistochemistry. Here, we report a newly diagnosed case of multiple myeloma with clinical suspicion of renal amyloidosis, which had negative IF staining for kappa and lambda light chains in the glomeruli. Although laser microdissection and mass spectrometry-based proteomic analysis have emerged as important tools for amyloid typing in the literature, such facilities are still not widely available in Asia. We propose that a clinicopathological algorithm for the evaluatio...
Source: Case Reports in Nephrology and Dialysis - September 11, 2020 Category: Urology & Nephrology Source Type: research

Critical Coronavirus Disease 2019 in a Hemodialysis Patient: A Proposed Clinical Management Strategy
We report our experience in treating the first case of COVID-19 in a HD patient in Singapore who had a severe clinical course including acute respiratory distress syndrome and propose a clinical management strategy. We propose a clinical workflow in managing such patients based on available evidence from literature review. We also highlight the importance of early recognition and intervention for disease control, dialysis support in an acute hospital isolation facility, deisolation protocol, and discharge planning due to prolonged viral shedding. The case highlights important points specific to a HD patient with a COVID-19...
Source: Case Reports in Nephrology and Dialysis - July 30, 2020 Category: Urology & Nephrology Source Type: research

A Case of Myeloma Kidney with Perinuclear Anti-Neutrophil Cytoplasmic Antibody and Anti-Myeloperoxidase Positivity: The Importance of Determining the True Cause of Renal Impairment
We present the case of a 60-year-old man who presented with clinical features suggestive of AAV in the context of blood tests which demonstrated AKI and positive perinuclear ANCA (p-ANCA) and anti-myeloperoxidase (anti-MPO) titres. Further investigations demonstrated an underlying diagnosis of MM. A renal biopsy was ultimately required to determine the cause of AKI, a cast nephropathy. This case is the first to our knowledge which demonstrates a rare situation in which myeloma kidney is associated with positive p-ANCA and anti-MPO titres, without any evidence of a crescentic GN. It highlights the importance of following up...
Source: Case Reports in Nephrology and Dialysis - July 29, 2020 Category: Urology & Nephrology Source Type: research

A Family with Gitelman Syndrome with Asymptomatic Phenotypes while Carrying Reported SLC12A3 Mutations
Gitelman syndrome (GS) is an autosomal recessive disorder characterized by alkalosis, hypokalemia, and hypomagnesemia. Although hundreds of genetic variants associated with GS have been reported, many of them are categorized as of uncertain significance in ClinVar. Here, we describe a pediatric GS patient from a three-generation family whose mother and maternal grandmother were asymptomatic. The proband was a 16-year-old Japanese girl with muscle weakness and continuous hypokalemic metabolic alkalosis. The patient, her mother, and her maternal grandmother were compound heterozygous for, and each expressing a different comb...
Source: Case Reports in Nephrology and Dialysis - July 13, 2020 Category: Urology & Nephrology Source Type: research

Peritoneal Dialysis Zoonotic Bacterial Peritonitis with Staphylococcus pseudintermedius 
We present the first reported case of peritoneal dialysis-associated peritonitis caused byStaphylococcuspseudintermedius, an organism that had been misclassified asS.aureus in the past.S.pseudintermedius is well recognized in the veterinary literature and noted as flora in the mouth, nares, and anus of domesticated animals. It has been associated with soft tissue infections in pets and is now being reported in increased frequency as the causative agent in various human infections. It also has a different antibiotic sensitivity profile. The patient had close contact with her pet dog and was successfully treated with intrave...
Source: Case Reports in Nephrology and Dialysis - June 12, 2020 Category: Urology & Nephrology Source Type: research

Giant Brachial Aneurysm after Arteriovenous Fistula Ligation: A Review of the Different Surgical Approaches
We describe our experience and our surgical approach. A 45-year-old man presented to our attention for a large pulsatile formation on the volatile face of the left forearm, which he reported to have enlarged in the last year. He had a history of chronic renal impairment in 2000, then AVF for dialysis was realized, and he was finally addressed to kidney transplantation in 2004. In 2011 the AVF was ligated. We observed absence of radial pulse and direct flow on the ulnar artery; a large pulsatile formation was evident along the course of the left brachial artery, associated with forearm venous dilatation. Doppler ultrasound ...
Source: Case Reports in Nephrology and Dialysis - May 27, 2020 Category: Urology & Nephrology Source Type: research

Cat Rearing: A Potential Risk of Fulminant Sepsis Caused by Capnocytophaga canimorsus in a Hemodialysis Patient
Capnocytophaga canimorsus is a commensal organism colonized in oral flora of dogs and cats and causes severe sepsis through bite wound in immunocompromised patients. To date, hemodialysis has not been reported as a risk ofC. canimorsus infection. A 75-year-old woman with end-stage renal disease secondary to hypertension suddenly developed septic shock. She reared 6 cats in her home, but no bite or scratch wound was found on her body. She was empirically treated with piperacillin-tazobactam and temporally received continuous hemodiafiltration. On the fifth day after sampling, blood culture revealedC. canimorsus as the cause...
Source: Case Reports in Nephrology and Dialysis - May 13, 2020 Category: Urology & Nephrology Source Type: research

Acute Kidney Injury Associated with Minimal Change Nephrotic Syndrome in an Elderly Patient Successfully Treated with both Fluid Management and Specific Therapy Based on Kidney Biopsy Findings
Oliguric acute kidney injury (AKI) with minimal change nephrotic syndrome (MCNS) has long been recognized. Several mechanisms such as hypovolemia due to hypoalbuminemia and the nephrosarca hypothesis have been proposed. However, the precise mechanism by which MCNS causes AKI has not been fully elucidated. Herein, we describe an elderly patient with AKI caused by MCNS who fully recovered after aggressive volume withdrawal by hemodialysis and administration of a glucocorticoid. A 75-year-old woman presented with diarrhea and oliguria, and laboratory examination revealed nephrotic syndrome (NS) and severe azotemia. Fluid admi...
Source: Case Reports in Nephrology and Dialysis - April 22, 2020 Category: Urology & Nephrology Source Type: research

Catheter Access Management for Acute Peritoneal Dialysis
Insertion of a peritoneal dialysis (PD) catheter is frequently done by interventional nephrologists, but these procedures are typically only performed for adults. Almost all invasive procedures in children are performed by pediatric surgeons. If a pediatric surgeon is unavailable, the initiation of PD in acute situations may be delayed, thus increasing the risk of complications and chronic kidney disease. For these patients, the main obstacle to initiating renal replacement therapy is access, even when involving central vein catheter (CVC) or peritoneal access. Here we report the case of a 10-kg baby affected by hemolytic ...
Source: Case Reports in Nephrology and Dialysis - April 14, 2020 Category: Urology & Nephrology Source Type: research

A Case of Acute Kidney Injury in a Patient with Renal Hypouricemia without Intense Exercise
Exercise-induced acute kidney injury (EIAKI) frequently develops in patients with renal hypouricemia (RHUC). However, several cases of RHUC with acute kidney injury (AKI) but without intense exercise have been reported. We encountered a 15-year-old male with RHUC who experienced AKI. He reported no episodes of intense exercise and displayed no other representative risk factors of EIAKI, although a vasopressor had been administered for orthostatic dysregulation before AKI onset. His kidney dysfunction improved with discontinuation of the vasopressor and conservative treatment. Thus, AKI can develop in patients with RHUC in ...
Source: Case Reports in Nephrology and Dialysis - March 30, 2020 Category: Urology & Nephrology Source Type: research

Effective Management of Peritoneal Dialysis-Associated Hydrothorax in a Child: A Case Report
Peritoneal dialysis (PD) confers many advantages, including a better quality of life for children with end-stage renal disease; however, the procedure is associated with several complications, including pleuroperitoneal leaks. Here, we report an unusual case of hydrothorax caused by long-term PD in a child, which was further complicated by pneumonia. A 9-year-old boy who had received CAPD for 22 months presented with dyspnea, swelling, and increased body weight. Chest tube drainage yielded 500 mL of transudative fluid. Computed tomography peritoneography revealed increased outflow from the peritoneum to the pleural cavity....
Source: Case Reports in Nephrology and Dialysis - February 12, 2020 Category: Urology & Nephrology Source Type: research