Publications by authors named "Balwani M"
Article Synopsis
- * A case of a 54-year-old man with type 2 diabetes showed worsening pain in his calf, where tests confirmed muscle injury and inflammation as the cause of his symptoms.
- * Treatment included hemodialysis, medications for pain and blood sugar control, and lifestyle changes, highlighting the need for early diagnosis and management of DMI to prevent complications.
Article Synopsis
- Givosiran is an RNA interference drug approved to treat acute hepatic porphyria, particularly acute intermittent porphyria, and this study examined its long-term safety and efficacy over a follow-up period of up to 48 months.* -
- Sixteen participants, aged 18-65, were monitored for adverse events, changes in specific biomarker levels, rates of porphyria attacks, and quality of life; common side effects included abdominal pain and nausea.* -
- Results showed a significant reduction in porphyria attacks (97%) and hemin usage (96%), with all patients free from major attacks after 33 months, along with notable improvements in urinary biomarkers and quality of life.*
Article Synopsis
- * Methods: The paper discusses the results of a single-center program that managed 539 KET cases to increase living donor kidney transplants between January 2000 and March 2024.
- * Results: Out of 5346 living donor kidney transplants, 539 were through KET, mainly involving ABO incompatible pairs, with successful outcomes after an average follow-up of 8.2 years, demonstrating effective strategies for KET implementation.
Article Synopsis
- Carpenter syndrome is a rare autosomal recessive disorder caused by RAB23 mutations, marked by features like craniofacial anomalies, heart disease, brachydactyly, and obesity.
- With an incidence of about one in a million births, diagnosing this syndrome can be difficult due to its variety of symptoms.
- This case report connects Carpenter syndrome to chronic kidney disease (CKD), highlighting the need for more research on the genetic links and clinical management of these conditions.
Article Synopsis
- * The patient's symptoms included swelling in lower limbs, facial puffiness, frothy urine, and difficulty breathing, with lab tests showing abnormal kidney function and imaging confirming infective endocarditis caused by Burkholderia cepacia and resistant Staphylococcus bacteria.
- * Multidisciplinary treatment involved respiratory support, hemodialysis, antibiotics, and blood transfusions, emphasizing the need for quick recognition and management of IRGN to prevent lasting kidney damage and other serious complications.
Background: Patients with type 1 Gaucher disease (GD1) have a significantly increased risk of developing Parkinson's disease (PD).
Objective: The objective of this study was to evaluate skin α-synuclein (αSyn) seeding activity as a biomarker for GD1-related PD (GD1-PD).
Methods: This single-center study administered motor and cognitive examinations and questionnaires of nonmotor symptoms to adult patients with GD1.
Article Synopsis
- - The case report highlights a 48-year-old woman with chronic kidney disease who developed pure red cell aplasia (PRCA) due to anti-erythropoietin (EPO) antibodies after receiving EPO injections for anemia.
- - Following a severe drop in her hemoglobin levels, she was treated with desidustat, a new oral medication that improved her hemoglobin significantly while being less likely to induce an immune response.
- - This case emphasizes the importance of quick diagnosis and the potential of desidustat as a safer alternative for treating anemia in patients, showcasing advancements in treatment within the context of the first reported case in India.
Article Synopsis
- Renal aspergillosis is a rare but serious complication following kidney transplants, highlighted by the case of a 45-year-old man who had a transplant from his mother.
- After initially recovering, the patient faced kidney dysfunction and signs of systemic infection due to active antibody-mediated rejection, leading to a diagnosis of renal aspergillosis.
- Despite aggressive treatment efforts, the patient's condition worsened to renal graft cortical necrosis, resulting in the need for nephrectomy, emphasizing the importance of early diagnosis and intervention in transplant patients.
Article Synopsis
- Membranous nephropathy (MN) is a major cause of nephrotic syndrome in non-diabetic adults and can be primary (due to autoantibodies) or secondary to other illnesses.
- A rare type, NELL-1-associated MN, poses diagnostic challenges and can lead to complications like renal vein thrombosis (RVT), which is not often documented.
- A case study of a 43-year-old male with NELL-1-positive MN complicated by RVT shows successful treatment with thrombolysis and emphasizes the need for more research on anti-NELL-1 antibodies and personalized anticoagulation strategies for better management.
Article Synopsis
- Erythrocytosis, a rare side effect of SGLT2 inhibitors like dapagliflozin, is often overlooked in diabetic patients with chronic kidney disease (CKD), despite its documented occurrence.
- The report highlights two cases where erythrocytosis developed quickly in CKD patients on dapagliflozin, suggesting a need for increased vigilance from healthcare providers.
- Effective management involves regular hemoglobin monitoring and prompt discontinuation of the medication to prevent complications, advocating for routine blood evaluations in CKD patients undergoing SGLT2i treatment.
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.
View Article and Find Full Text PDFArticle Synopsis
- Maintenance hemodialysis (MHD) patients are at higher risk for severe COVID-19, and this study evaluated the antibody response to the COVISHIELD vaccine after two doses.
- Among 50 MHD patients, 96% showed seropositivity, with those having a prior COVID-19 infection exhibiting significantly higher antibody levels.
- The COVISHIELD vaccine proved to be effective and safe, with mild adverse events reported in one-third of patients but no serious complications.
Gaucher disease type 1 (GD1) is known for phenotypic heterogeneity and varied natural history. Registrational clinical trials enrolled narrowly defined phenotypes, but greater diversity is encountered in clinical practice. We report real-world outcomes with long-term eliglustat treatment in adults with GD1 in the International Collaborative Gaucher Group Gaucher Registry.
View Article and Find Full Text PDFArticle Synopsis
- The acute hepatic porphyrias (AHPs) are a group of four rare genetic disorders that cause serious, episodic neurological symptoms due to a buildup of specific chemical precursors in the liver.
- Diagnosis can be challenging due to non-specific symptoms, but specialized tests during attacks can confirm the condition.
- Treatment for severe episodes includes intravenous hemin, and potential long-term management with givosiran is available for patients with frequent attacks; regular health surveillance is also necessary to monitor for serious complications.
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.
View Article and Find Full Text PDFAutoimmune 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.
View Article and Find Full Text PDFAnti-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.
View Article and Find Full Text PDFPrimary 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 gene, confirming PH2.
View Article and Find Full Text PDFArticle Synopsis
- Lupus nephritis (LN) is a serious complication of systemic lupus erythematosus (SLE) that can lead to rapid kidney failure requiring immediate treatment.
- Crescentic lupus nephritis is a rare form that can result in quickly progressing renal failure (RPRF).
- Collapsing glomerulopathy (CG) is associated with lupus nephritis and indicates a severe kidney issue related to lupus, though it's not frequently discussed in medical literature.
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.
View Article and Find Full Text PDFA 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.
View Article and Find Full Text PDFThe porphyrias are a group of rare diseases, each resulting from a defect in a different enzymatic step of the heme biosynthetic pathway. They can be broadly divided into two categories, hepatic and erythropoietic porphyrias, depending on the primary site of accumulation of heme intermediates. These disorders are multisystemic with variable symptoms that can be encountered by physicians in any specialty.
View Article and Find Full Text PDF