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Carpenter syndrome, characterized by RAB23 mutations, is a rare autosomal recessive disorder distinguished by unique features such as craniofacial anomalies, congenital heart disease, brachydactyly, and obesity. This syndrome's rarity, with an estimated prevalence of one in a million births, poses diagnostic challenges due to its diverse clinical spectrum. Notably, this case report highlights an unusual association of Carpenter syndrome with chronic kidney disease (CKD), underscoring the need for further exploration into the syndromic interplay and shared genetic pathways. The distinctive manifestation of CKD in the context of Carpenter syndrome adds a novel dimension, emphasizing the importance of timely diagnosis and comprehensive care. Further research is warranted to unravel the intricate genetic and molecular pathways underlying the syndrome's diverse manifestations, shedding light on potential shared mechanisms and paving the way for targeted interventions and enhanced patient care.
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Infection-related glomerulonephritis (IRGN) is a rare but severe complication of bacterial infections, including subacute bacterial endocarditis (SBE). We present a case of a 15-year-old male with bilateral lower limb swelling, facial puffiness, frothy urine, and dyspnea. Laboratory investigations revealed abnormal kidney function tests and imaging studies confirmed infective endocarditis. Blood cultures isolated Burkholderia cepacia and methicillin-resistant coagulase-negative Staphylococcus. Kidney biopsy confirmed immune complex-mediated glomerulonephritis. The patient received multidisciplinary care, including respiratory support, hemodialysis, antibiotics, and blood transfusion. This case highlights the importance of recognizing and promptly managing IRGN secondary to SBE to prevent irreversible renal damage and systemic complications.
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Renal aspergillosis is a rare yet potentially devastating complication following renal allograft transplantation. We present the case of a 45-year-old male with a history of crescentic IgA nephropathy who underwent renal allograft transplantation from his mother. Despite initial favorable progress, he developed post-transplant renal dysfunction attributed to active antibody-mediated rejection. Subsequently, he presented with signs of systemic infection and graft dysfunction, leading to the diagnosis of renal aspergillosis. Despite aggressive management, including antifungal therapy and cessation of immunosuppression, the patient progressed to renal graft cortical necrosis, necessitating nephrectomy. This case underscores the challenges in diagnosing and managing renal aspergillosis in transplant recipients and highlights the importance of early recognition and prompt intervention to improve outcomes in such cases.
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Pure red cell aplasia (PRCA), a rare hematological disorder marked by severe anemia and reticulocytopenia, results from the near absence of developing erythroid precursors in the otherwise normal bone marrow. This case report focuses on a 48-year-old female with chronic kidney disease (CKD) who received erythropoietin injections for CKD-related secondary anemia. Despite an initial positive response, a sudden drop in hemoglobin levels prompted investigations, revealing endogenous erythropoietin (EPO)-induced PRCA due to anti-EPO antibodies. In response, desidustat, an oral hypoxia-inducible factor-prolyl hydroxylase inhibitor, was successfully introduced as an alternative treatment. This led to a substantial and sustained improvement in hemoglobin levels, emphasizing the crucial role of swift diagnosis and intervention in EPO-induced PRCA cases. Administration method and storage conditions are noteworthy factors influencing recombinant human erythropoietin (rHuEPO) immunogenicity. The case underscores desidustat's emergence as a less immunogenic and effective alternative for anemia, marking a significant advancement, particularly in the context of this pioneering case in India showcasing its efficacy.
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Membranous nephropathy (MN) is a significant cause of nephrotic syndrome in non-diabetic adults. It can be primary, attributed to autoantibodies targeting podocyte antigens, or secondary to various disorders. Although rare, nerve epidermal growth factor-like 1 (NELL-1)-associated MN presents diagnostic and management challenges. Thrombotic complications such as renal vein thrombosis (RVT) are recognized but less reported, especially in NELL-1-positive MN. We report a 43-year-old male with NELL-1-positive MN complicated by acute kidney injury (AKI) due to bilateral RVT, treated successfully with thrombolysis. Histopathological analysis confirmed MN with specific immunohistochemical staining for NELL-1. Treatment included immunosuppressive therapy and tailored anticoagulation. This case emphasizes recognizing thrombotic complications in MN, particularly in NELL-1-positive cases. Further research is needed to explore serum anti-NELL-1 antibodies as biomarkers and optimal anticoagulation strategies in MN patients at risk of thrombotic events to improve outcomes and guide personalized management.
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Erythrocytosis, a rare adverse effect associated with sodium-glucose cotransporter 2 inhibitors (SGLT2i), has been reported in diabetic patients, but its occurrence in those with chronic kidney disease (CKD) remains underrecognized. Here, we present two cases of dapagliflozin-related erythrocytosis in diabetic patients with CKD, highlighting the need for increased awareness among clinicians. Despite the established efficacy of SGLT2i in managing type 2 diabetes mellitus (T2DM) and its cardiovascular benefits, erythrocytosis poses a potential complication, necessitating thorough understanding and monitoring. While the precise mechanism of SGLT2i-induced erythrocytosis remains unclear, hypotheses include hemoconcentration and modulation of iron metabolism. Notably, our cases demonstrate a rapid onset of erythrocytosis, possibly exacerbated by CKD, emphasizing the importance of vigilant hemoglobin monitoring, especially in CKD patients on SGLT2i therapy. Timely discontinuation of dapagliflozin resulted in a significant reduction in hemoglobin levels, underscoring the critical role of early intervention in preventing erythrocytosis-related complications. This report advocates for routine hematological evaluation in CKD patients treated with SGLT2i to promptly detect and manage erythrocytosis, enhancing patient safety and improving clinical outcomes.
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Bortezomib is a frequently administered immunosuppressive agent in kidney transplantation. A 30-year-old male kidney transplant recipient developed an atypical reaction on the left hand in terms of spider-like extensions, indicating erythematous inflammation along the superficial veins after bortezomib intravenous administration. The inflammation spontaneously resolved after three weeks with a bortezomib dose reduction. Nephrologists must be familiar with the potential cutaneous bortezomib-induced adverse effects.
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This case report details a 62-year-old male with a history of right renal cell carcinoma (RCC) who developed sunitinib-induced nephrotic syndrome during treatment. The patient had a complex medical history, including a right nephrectomy in 2009, brain metastasis excisions in 2011 and 2012, and prolonged sunitinib therapy. Hypothyroidism, hypertension, and various surgeries further complicated his clinical picture. In April 2022, the patient presented with bilateral pedal edema, acute kidney injury superimposed on chronic kidney disease, and proteinuria. Upon examination, the decision was made to discontinue sunitinib, leading to the resolution of nephrotic syndrome. Adjustments in thyroxine dosage were made, and pharmacological interventions were employed to manage proteinuria and renal dysfunction. A multidisciplinary approach involving oncologists, nephrologists, and endocrinologists was essential in achieving a favorable outcome. The case highlights the intricate balance required in managing patients undergoing targeted cancer therapies, emphasizing the importance of vigilant monitoring, prompt intervention, and a collaborative approach for optimal patient care.
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Elizabethkingia meningoseptica is a rare gram-negative bacterium recognized for its propensity to induce hospital-acquired infections, particularly in individuals with compromised immune systems and those equipped with indwelling medical devices. Its notorious resistance to a broad spectrum of antibiotics poses a considerable challenge in treatment protocols, contributing to its emergence as a significant cause of heightened mortality rates among critically ill patients. Herein, we present a case of E. meningoseptica infection in a patient afflicted with end-stage renal disease (ESRD) undergoing maintenance hemodialysis, concurrently grappling with ESRD, and a positive status for hepatitis B. This case report aims to shed light on the intricate complexities involved in diagnosing and managing such infections within this intricate clinical context.
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The autoimmune connective tissue disease scleroderma is characterized by fibrosis of the skin, blood vessels, and visceral organs. Overlap syndromes are conditions in which a patient has characteristics from two or more autoimmune disorders. The coexistence of scleroderma and lupus nephritis is rare but documented. However, it is crucial to note that both scleroderma and lupus are complex autoimmune diseases with diverse clinical presentations and can affect multiple organ systems, including the kidneys. This case report presents a unique clinical scenario of a patient with the coexistence of scleroderma and systemic lupus erythematosus with Class V lupus nephritis, highlighting the challenges in diagnosis, treatment, and the need for a multidisciplinary approach.
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The incidence of acute kidney injury (AKI) has increased in the recent past. Patients with AKI have an increased risk of mortality. They are also at increased risk of developing chronic kidney disease (CKD). AKI can lead to irreversible loss of renal function despite complete clinical recovery. Currently, no tools are available to diagnose this subclinical loss of renal function. Renal functional reserve (RFR) can serve as an essential tool for analyzing this subclinical loss of renal function, and patients with loss of RFR post-AKI may be closely followed for the development of CKD. This prospective observational study, conducted at the Department of Nephrology, Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), aimed to investigate RFR in 223 patients with AKI requiring dialysis. The study excluded patients with CKD and obstructive uropathy. Methods included RFR assessment three months post-AKI recovery, utilizing technetium-99m (Tc-99m) diethylenetriaminepentaacetic acid (DTPA) plasma clearance during amino acid infusion. Statistical analyses and logistic regression were applied, receiving ethical approval. Results revealed a high in-hospital mortality rate of 78.02%, associated with elevated Sequential Organ Failure Assessment (SOFA) scores. Among 24 patients with complete AKI recovery, the RFR at three months was 10.06% (interquartile range (IQR) 5.60-20.15), with the measured GFR significantly lower than the estimated glomerular filtration rate (GFR). The study concludes that AKI requiring dialysis is linked to high mortality and emphasizes the predictive value of SOFA scores. Additionally, RFR testing at three months post-recovery provides insights into potential long-term impacts on renal function. This study contributes valuable insights into the prognosis of AKI patients requiring dialysis. It underscores the need for further research on RFR as a diagnostic tool and the lasting consequences of AKI.
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Autoimmune diseases may act as a trigger for atypical hemolytic uremic syndrome (aHUS). Triggers for aHUS may include autoimmune diseases, infections, metabolic conditions, pregnancy, and transplants. aHUS-mediated injury to various organs, especially kidneys, can be life-threatening. Here, we present the case of a young female who had perinuclear antineutrophil cytoplasmic antibody (p-ANCA)-associated vasculitis and was diagnosed with aHUS. We consider underlying autoimmune p-ANCA-associated vasculitis as a trigger for aHUS in this case.
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Anti-glomerular basement membrane (Anti-GBM) disease is a severe form of glomerulonephritis (GN) that predominantly impacts individuals aged 20 to 70. It arises from the presence of circulating antibodies that specifically target an antigen inherent to the basement membranes of glomerular and alveolar structures. A unique subset within this category is termed atypical anti-GBM disease. In this variant, a distinctive feature is the widespread linear staining of the glomerular basement membrane (GBM) by IgG observed through immunofluorescence microscopy, with the notable absence of anti-GBM antibodies in the patient's serum. Here, we present an unusual case involving a 65-year-old female patient who sought medical attention due to rapidly progressing renal failure. The initial management included six hemodialysis sessions. Following a kidney biopsy, the diagnosis revealed a sclerosed phase of diffuse crescentic glomerulonephritis, attributed to atypical anti-GBM disease. Given the presence of diffuse crescents on the kidney biopsy, the medical team opted for an aggressive treatment regimen, commencing with intravenous methylprednisolone, followed by oral cyclophosphamide and oral prednisolone. Plasmapheresis was also recommended as part of the treatment plan, although it did not materialize due to the family's reluctance. Despite exhaustive efforts, the renal failure exhibited no signs of improvement, leading to the patient's discharge with a plan for ongoing maintenance hemodialysis. It is crucial to emphasize the pivotal role of immunosuppressive medications in managing this condition, as they play a critical role in preventing antibody formation and subsequent hypersynthesis that can exacerbate the disease.
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Primary hyperoxaluria type 2 (PH2) is a rare genetic disorder characterized by excessive oxalate production due to glyoxylate metabolism alterations. This case report presents a 26-year-old male with PH2 who experienced recurrent nephrolithiasis since childhood, leading to end-stage renal disease (ESRD). The patient's history prompted genetic testing, which revealed a heterozygous missense variant in the GRHPR gene, confirming PH2. Early genetic diagnosis is crucial for preventing ESRD and planning effective treatments. Patients with PH2 require intensive hemodialysis and may benefit from kidney transplantation. However, even after transplantation, ongoing preventive measures are essential due to the risk of hyperoxaluria-related graft damage. This case highlights the importance of early detection and genetic testing in managing PH2 to delay ESRD and improve patient outcomes.
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Compared to operative hysteroscopy, diagnostic hysteroscopy rarely leads to issues. However, one very uncommon yet potentially fatal complication is air embolism, with an incidence rate of three in 17,000 cases. This report describes an unexpected complication discovered during diagnostic hysteroscopy surgery. In the course of routine infertility testing, a 29-year-old woman underwent a diagnostic hysteroscopy under general anesthesia. Intraoperatively, her end-tidal carbon dioxide (EtCO2) levels decreased, oxygen saturation dropped, and heart rate increased, leading the anesthesiologists and critical care team to terminate the procedure and manage her further. Subsequent transesophageal echocardiography confirmed the diagnosis of air embolism. She was managed with 100% oxygen and inotropes and cardiopulmonary resuscitation but despite aggressive medical interventions, her condition did not improve, and she unfortunately passed away. To diagnose, prevent, and manage the potentially devastating consequences associated with diagnostic hysteroscopy, gynecologists and surgical teams must maintain vigilance. The focus should be on proper patient selection, optimal surgical techniques, and the use of high-quality equipment to mitigate the risk of air embolism.
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Lupus nephritis (LN) is one of the most severe organ manifestations of systemic lupus erythematosus (SLE). Crescentic lupus nephritis rarely presents as rapidly progressive renal failure (RPRF) and needs prompt initiation of treatment. Collapsing glomerulopathy (CG) itself is associated with poor renal survival. Collapsing glomerulopathy's association with lupus nephritis is rarely reported in the literature. It may indicate a severe form of lupus podocytopathy.
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Kidney disease poses a significant burden on individuals with HIV infection. In the pre-ART era, HIV-associated nephropathy (HIVAN) was the most common renal pathology identified in individuals with HIV. However, the widespread use of ART has led to changes in the spectrum of renal pathologies associated with HIV. HIV infection is an unclear cause of AA amyloidosis. Here, we report a rare case of an HIV-positive patient presenting with nephrotic syndrome which turned out to be AA amyloidosis on renal biopsy.
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A 64-year-old male, with end-stage renal disease on maintenance hemodialysis twice a week for the last two years, presented with swelling over the left half of his face, left side of the neck, and left upper limb for two months. The vascular access for hemodialysis was the left brachiocephalic arteriovenous (AV) fistula. There was no history of insertion of a dialysis catheter on the left side of the neck. Physical examination showed dilated and tortuous veins over the left side of his chest and left arm with normal-functioning AV fistula. Computed tomography (CT) venogram revealed narrowing in the left brachiocephalic vein and cephalic vein with multiple collaterals in the left upper limb and shoulder region. Ballon angioplasty was done across the stenotic segments, and a good flow was achieved with no remnant stenosis. This is a rare presentation as there was no history of cannulation of left-sided central vessels.
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BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a rare disorder with a high probability of recurrence after a kidney transplant and can adversely affect the graft outcome. Our objective was to assess the transplant outcome of patients with aHUS who had undergone a kidney transplant. METHODS: We retrospectively included patients who had undergone a kidney transplant and been diagnosed with aHUS based on an anti-complement factor H (AFH) antibody level >100 AU/mL and the presence of a genetic abnormality in complement factor H (CHF) or CHF-related (CFHR) genes. Data were analyzed with descriptive statistics. RESULTS: Among 47 patients with AFH antibody levels >100 AU/mL, 5 (10.6%) had undergone a kidney transplant. The mean age was 24.2 years, and all were male. Atypical hemolytic uremic syndrome was diagnosed before transplant in 4 (80.0%) cases, whereas 1 was diagnosed after transplant owing to disease recurrence in the transplanted graft. Genetic analysis of all cases revealed one or more abnormalities in CFH and CFHR genes 1 and 3. With an average of 5 sessions of plasma exchange and the use of rituximab in 4 cases, there was a reduction in the disease severity with no recurrences in the post-transplant period. At the latest follow-up of 223 days, the mean serum creatinine level was 1.89 mg/dL, indicating good graft function. CONCLUSIONS: Among patients diagnosed with aHUS, the use of pre-transplant plasma exchange and rituximab can be beneficial in terms of preventing graft dysfunction and reducing disease recurrence in the post-transplant period.
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Síndrome Hemolítico-Urêmica Atípica , Transplante de Rim , Humanos , Masculino , Adulto Jovem , Adulto , Feminino , Síndrome Hemolítico-Urêmica Atípica/genética , Transplante de Rim/efeitos adversos , Fator H do Complemento/genética , Rituximab , Estudos Retrospectivos , MutaçãoRESUMO
BACKGROUND: Tacrolimus is essential for the maintenance of immunosuppression after a kidney transplant. CYP3A5 is the gene that metabolizes tacrolimus, and polymorphism in this gene affects the metabolizing status. AIM: To assess the genetic polymorphism status of patients undergoing kidney transplantation and determine its impact on graft function and complications in the post-transplant period. METHODS: We retrospectively included the patients who had undergone a kidney transplant and had positive genetic polymorphism of the CYP3A5 gene. Based on loss of alleles, patients were categorized as non-expresser (loss of both alleles), intermediate expresser (loss of one allele), and expresser (no loss of allele) denoted by CYP3A5*3/*3, CYP3A5*1/*3, and CYP3A5*1/*1, respectively. Data were analyzed with descriptive statistics. RESULTS: Of 25 patients, 60%, 32%, and 8% were non-expressers, intermediate-expressers, and expressers, respectively. The mean tacrolimus trough concentration to dose ratio after 6 months of the transplant was higher in non-expressers than intermediate-expressers and expressers (213 vs 85 and 46 ng/mL/mg/kg/d, respectively). The graft function was normal in all 3 groups except for graft rejection 1 patient in the expresser group. Compared with expressers, urinary tract infections (42.9% and 62.5%) and new-onset diabetes after transplantation (28.6% and 12.5%) were more frequent in non-expresser and intermediate expressers, respectively. The proportion of patients developing new-onset diabetes after transplantation was lower with the pre-transplant diagnosis of CYP3A5 polymorphism (16.7% vs 23.1%). CONCLUSION: Genotype-based dosing of tacrolimus helps achieve the desired therapeutic concentrations that can help to optimize graft outcomes and reduce the tacrolimus-related adverse effects. Pre-transplant evaluation of CYP3A5 can be more helpful in planning treatment strategies for optimized outcomes after kidney transplantation.