Case Reports in Nephrology最新文献

Introduction: The heterogeneity of membranous nephropathy is well described in the literature, and its clinical course and response to treatment vary. Similarly, acute interstitial nephritis (AIN) can present in unexpected and unusual ways and should always be considered within the differential diagnosis of worsening renal function. This case study describes the cross-section of these two disease entities.

Clinical case: A 68-year-old male with a history of hypertension, chronic obstructive pulmonary disease (COPD), hyperlipidaemia, gout and treated prostate cancer presented with bilateral lower limb swelling and progressive renal dysfunction. Initial laboratory findings demonstrated nephrotic syndrome with impaired renal function. A positive phospholipase A2 receptor (PLA2R) antibody confirmed primary membranous nephropathy. Renal biopsy showed typical findings of membranous nephropathy. Treatment with prednisolone and cyclophosphamide improved renal function initially. However, as prednisolone was tapered, creatinine levels rapidly worsened, leading to a second biopsy. The second biopsy demonstrated AIN superimposed on chronic membranous nephropathy. A drug-induced aetiology was suspected, with pantoprazole, trimethoprim-sulfamethoxazole and frusemide identified as the most likely contributors. Following withdrawal of these agents and reinitiation of high-dose corticosteroids, the patient's renal function improved markedly, obviating the need for dialysis.

Conclusion: This case highlights the importance of considering AIN and the need for timely repeat renal biopsy in cases of deteriorating renal function.

Hereditary steroid-resistant nephrotic syndrome (HSRNS) due to mutations in the NPHS2 gene (encoding podocin) is a rare genetic condition that typically presents in childhood. We report a case of a 2-year-and-8-month-old male, the seventh child of consanguineous parents, who presented with recurrent fever, febrile tonic-clonic seizures, and periorbital edema. His medical history included multiple hospitalizations in infancy due to suspected sepsis and chest infections. Upon admission, laboratory findings revealed proteinuria, hypoalbuminemia, and hypercholesterolemia, along with mild hepatomegaly. Genetic testing identified compound heterozygous mutations (R138X and E130K) in the NPHS2 gene, confirming a diagnosis of HSRNS. Renal biopsy revealed features consistent with minimal change disease, and immunofluorescence was negative for IgG, IgM, IgA, C3, and C4. The patient was treated with enalapril as part of supportive management. This case highlights the importance of early genetic testing and renal biopsy in diagnosing steroid-resistant nephrotic syndrome, particularly in children with atypical presentations. Understanding the genetic underpinnings of such rare cases is essential for guiding appropriate treatment and providing prognostic insights.

This was a case of a 65-year-old gentleman known to have diabetes mellitus and hypertension since 2012 and post renal transplantation in 2016. He had also been treated for hepatitis C infection in the past. His regular medications included nebivolol 5 mg once a day, tacrolimus 4 mg twice a day, mycophenolate mofetil 500 mg twice a day, prednisolone 5 mg once a day, and insulin-novomix 14 units in the morning and 6 units at night. He presented to a tertiary teaching hospital in Kenya in October 2023 with abdominal pain, vomiting, and constipation on and off for 6 months, worse in the month prior to presentation. His examination was positive for dehydration, abdominal distension, and generalized abdominal tenderness. He had a normal hematological profile and renal function. A CT scan of the abdomen showed features of small bowel obstruction from the distal ileal to distal jejunal bowel loops. The patient underwent an exploratory laparotomy with intraoperative findings of a midjejunal tumor completely obstructing the lumen with proximal dilatation. The tumor was subsequently excised. Histological specimen confirmed diffuse large B-cell lymphoma (DLBCL) as his final diagnosis.

We report a case of osteitis fibrosa cystica resulting from secondary hyperparathyroidism in a 21-year-old male patient with end-stage renal disease. The patient presented with persistent, moderate chest pain localized to the left fifth and sixth ribs for eight months. A chest X-ray revealed well-defined, expansile lytic lesions in these ribs. Prior testing showed elevated parathyroid hormone (PTH) levels for five years, along with decreased serum calcium and elevated phosphorus levels. Findings from ultrasound and SPECT scans were consistent with hyperparathyroidism. Repeat laboratory tests showed a PTH level of 939.8 pg/mL (normal: 10-69 pg/mL), calcium level of 8.3 mg/dL (normal: 8.4-10.2 mg/dL), and phosphorus level of 5.1 mg/dL (normal: 2.5-5.0 mg/dL). The patient declined surgical intervention and was managed conservatively with calcium and vitamin D supplementation. Within 4 weeks, symptoms resolved and calcium and phosphorus levels normalized, although PTH levels remained elevated. Osteitis fibrosa cystica can be challenging to diagnose due to its rarity, especially in developed countries, and its nonspecific clinical presentation. This case highlights the importance of considering this diagnosis and outlines an approach to management in resource-limited settings.

Transplant kidneys face increased functional demands in comparison to physiological conditions, and glomerular hypertrophy (GH) appears to be a common compensatory mechanism. Adaptive GH could contribute to improved graft function, but a so-called "maladaptive" response may lead to shortened graft survival. We assessed in three patients the mean glomerular diameter in donor preimplantation wedge biopsies and in subsequent posttransplant biopsies and correlated the glomerular size with Banff scores and clinical course. Mean glomerular size increased from 192.09 ± 28.65, 188.98 ± 19.86, and 168.96 ± 18.5 in preimplantation biopsies to 279.43 ± 50.6 (p < 0.0001), 275.23 ± 68.17 (p < 0.0001), and 266.23 ± 40.5 (p < 0.00001) in the last biopsies, respectively. The proportion of enlarged glomeruli (> 200 µ) increased from 42.86%, 31%, and 5% in the donor biopsies to 93.3% (p0.008), 95.7% (p < 0.0001), and 95.1% (p < 0.00001) in the last biopsy, respectively. Although GH was initially associated with the achievement of good graft function, secondary FSGS and proteinuria developed at 3, 7, and > 17 years posttransplant, respectively. GH (glomerulomegaly) can be easily appreciated by light microscopy, but is not routinely recorded in transplant biopsy reports. Recognition and documentation of GH could help identify factors associated with the "maladaptive" phase of this adaptive response and find interventions that can potentially prolong graft survival.

Calciphylaxis, also referred to as calcific uremic arteriolopathy (CUA), is a rare and life-threatening condition characterized by vascular calcification, ischemic tissue injury, and high morbidity and mortality. It is predominantly observed in patients with end-stage renal disease (ESRD) who are undergoing dialysis and typically presents with painful cutaneous ulcers. We report an exceptional case of gastric mucosal CUA in a dialysis-dependent ESRD patient, presenting with severe upper gastrointestinal bleeding in the absence of preceding skin lesions. Histopathologic examination of gastric biopsies confirmed vascular calcification consistent with CUA. Despite medical intervention, the patient's course was complicated by poor treatment adherence and subsequent fatal outcome. This case underscores the importance of maintaining high index of suspicion for atypical, visceral presentations of CUA in high-risk ESRD patients. This case was previously presented as a poster at the National Kidney Foundation 2025 Spring Clinical Meeting. Trial Registration: ClinicalTrials.gov identifier: NCT02278692.

(https://ce.mayo.edu/content/abstract-submission-mayo-clinic-nephrology-hypertension-and-kidney-transplantation-update-2). Bartter syndrome is characterized by severe hypokalemia due to renal tubular defects. A female in late 30s with Bartter syndrome Type IV presented with dizziness. She had been managing severe hypokalemia with intravenous potassium supplementation via an implanted port. She missed her scheduled potassium infusion and presented to the emergency department with a critically high potassium level of 8.2 mmol/L. Additionally, she was diagnosed with acute kidney injury, with a GFR of 39 mL/min down from 72 at her baseline. Her EKG showed QRS widening and tall T waves. Despite administration of multiple shifters, her potassium levels remained elevated. Urgent hemodialysis was initiated, temporarily reducing her potassium levels, but with a rebound to 9.1 mmol/L within hours. After three cycles of hemodialysis over 36 h, her potassium levels finally normalized to 4.7 mmol/L, and no further dialysis was required.

Hydrothorax is a possible complication of peritoneal dialysis due to migration of dialysate from the peritoneal cavity to the thoracic cavity through a congenital or acquired diaphragmatic defect that allows its passage. Diagnosis is clinical, supported by peritoneal CT and pleural fluid analysis. Therapy is given in the first instance by discontinuation of the peritoneal method, but sometimes an attempt may be made to reinstate it with appropriate changes in the prescription. We report here our experience about a case of hydrothorax during peritoneal dialysis reporting the most recent protocols for proper management.

Focal segmental glomerulosclerosis (FSGS) is a leading cause of nephrotic syndrome, often resistant to corticosteroid therapy. We report a 75-year-old female with relapsing primary FSGS successfully treated with a dual regimen of tacrolimus and mycophenolate mofetil (MMF) without steroids or cyclophosphamide. Following three years of combination therapy, with concurrent renin-angiotensin system and sodium-glucose cotransporter-2 inhibition, the patient achieved sustained remission with proteinuria < 500 mg/day, without complications. This case underscores the potential of tacrolimus and MMF as a steroid-sparing strategy in managing refractory FSGS. Further research is needed to validate this approach in larger patient populations.

Background: Pleomorphic adenoma is the most common salivary gland tumor and is notably able to metastasize while displaying a benign-appearing morphological appearance, greatly resembling that of the primary tumor.

Case report: Here, we report a case of a 66-year-old male who presented with a 7-month history of a left upper renal mass. Microscopic examination revealed characteristics typical of pleomorphic adenoma, including chondromyxoid stroma and benign ductal and tubular cells. Consequently, a diagnosis of benign mixed tumor resembling a metastasizing pleomorphic adenoma (MPA) to the kidney was made.

Conclusions: We report a rare instance of a tumor resembling pleomorphic adenoma with metastasis to the kidney, the 13^th reported case of kidney metastasis in the literature. This case is additionally the 2^nd case with metastases to the kidney and no known primary salivary gland tumor. We believe that this entity is most consistent with the histopathological findings reported in our case, despite the lack of a patient history of primary salivary gland tumor. We subsequently compare patient outcomes across all known cases of benign MPA to the kidney or PA-like tumors in the kidney with patient outcomes described in a 2015 study that analyzed all cases of MPA in the literature.