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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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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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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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IgG4-related disease (IgG4-RD) is an immune-mediated fibroinflammatory condition that has been recognized as a unified systemic disease that links many individual organ conditions that were previously considered to be unrelated. The pathological hallmark of the disease is an abundant IgG4-positive plasma cell infiltration in the affected tissues and fibrosis. It is a great mimicker of neoplastic, inflammatory, and infectious conditions. We report a 72-year-old man who presented to our hospital with dyspnea and oliguria. Detailed evaluation revealed that he was treated at multiple places for right-sided loin pain over the past 10 months and was found to have right-sided hydronephrosis, renal dysfunction, and multiple enlarged lymph nodes. A search for underlying malignancy previously was unyielding and he had rapid worsening of renal function prior to the current presentation. He was uremic and was initiated on hemodialysis. Kidney biopsy revealed features of IgG4-related tubulointerstitial nephritis. Despite tubular atrophy and interstitial fibrosis involving more than 50% of the sampled cortex, he showed a good response to steroids and rituximab (RTX) and became dialysis-independent. This report underscores the masquerading presentation of IgG4-RD which can hinder timely diagnosis and demonstrates the usefulness of a regimen of steroids and RTX in its treatment.
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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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Kidney transplant (KT) or renal transplant is 1 of the preferred treatment options for patients with end-stage renal disease, but the presence of atypical hemolytic uremic syndrome (aHUS) further increases the risk of reoccurrence with graft rejection, and poor outcomes. ABO incompatibility further adds to the rejection risk. Here, we present a case of a young adult with a history of aHUS undergoing a successful ABO-incompatible (ABOi) renal transplant. ABO incompatibility desensitization was carried out, and the antibody titer was reduced to nullify the risk of rejection. Graft acceptance was facilitated by triple immunosuppression (steroid, tacrolimus, and mycophenolate mofetil), and 4-month serum creatinine follow-up indicated the absence of antibody-mediated rejection and recurrence of aHUS. This case demonstrates that in patients with aHUS, ABOi renal transplant can be performed successfully.
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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 Urémico Atípico , Trasplante de Riñón , Humanos , Masculino , Adulto Joven , Adulto , Femenino , Síndrome Hemolítico Urémico Atípico/genética , Trasplante de Riñón/efectos adversos , Factor H de Complemento/genética , Rituximab , Estudios Retrospectivos , MutaciónRESUMEN
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.
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Trasplante de Riñón , Tacrolimus , Humanos , Tacrolimus/uso terapéutico , Trasplante de Riñón/efectos adversos , Inmunosupresores/efectos adversos , Citocromo P-450 CYP3A/genética , Citocromo P-450 CYP3A/metabolismo , Estudios Retrospectivos , Polimorfismo Genético , Terapia de Inmunosupresión , Genotipo , Rechazo de Injerto/genética , Rechazo de Injerto/prevención & control , Polimorfismo de Nucleótido SimpleRESUMEN
BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a rare disorder triggered by various stressors. Most of the time, stressors may not be identified in patients with aHUS. The disease may remain quiescent without manifestation throughout life. BACKGROUND: To assess the outcome of an asymptomatic carrier of genetic mutations of patients with aHUS who had undergone donor kidney retrieval surgery. METHODS: We retrospectively included the patients diagnosed with a genetic abnormality in complement factor H (CHF) or CHF-related (CFHR) genes without manifestation of the aHUS and who had undergone donor kidney retrieval surgery. The data were analyzed with descriptive statistics. RESULTS: Among patients who were the kidney recipients from the prospective donors, 6 donors were screened for genetic mutations in CFH and CFHR genes. Four donors showed positive mutation for CFH and CFHR. The mean age was 54.5 years (range, 50-64 years). After over a year since donor kidney retrieval surgery, all prospective mother donors are alive without aHUS activation and with a normal kidney function on a single kidney. CONCLUSION: Asymptomatic carriers of genetic mutations in CFH and CFHR can be the prospective donors for their first-degree family member who have active aHUS. A genetic mutation in an asymptomatic donor should not be a contraindication for refuting the prospective donor.
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Síndrome Hemolítico Urémico Atípico , Trasplante de Riñón , Humanos , Persona de Mediana Edad , Trasplante de Riñón/efectos adversos , Estudios Retrospectivos , Factor H de Complemento/genética , Factores Inmunológicos , Síndrome Hemolítico Urémico Atípico/genética , Mutación , RiñónRESUMEN
OBJECTIVES: Maintenance hemodialysis (MHD) patients are at increased risk of contracting coronavirus disease 2019 (COVID-19). Vaccine against COVID-19 offers the benefit of protection from severe illness. In this study, we assessed the humoral response after two doses of the COVISHIELDTM vaccine in MHD patients. MATERIALS AND METHODS: In a prospective cohort study, the humoral response with two doses of the COVISHIELDTM vaccine was assessed after 14 ± 2 days of the second dose. The COVIPROTECT antibody titers against the spike protein were measured using the electrochemiluminescence immunoassay (ELECSYS, Roche Diagnostics International Ltd.). Data were analyzed to determine the predictors of antibody response. RESULTS: Between February and October 2021, 50 MHD patients were assessed. The mean age was 55.8 ± 10.8 years, and 72% were males. A total of 48 (96%) MHD patients have seropositivity. The median level of spike protein antibody was 579 U/mL [interquartile range (IQR25-75) 166-1852.75]. Compared to patients with no COVID-19 infection history, the median levels of antibodies were significantly higher in those with a history of COVID-19 (1047 vs 297 U/mL, p = 0.011). The antibody titers did not differ by age (p = 0.269), presence of comorbidities such as hypertension (p = 0.341), diabetes mellitus (p = 0.719) or ischemic heart disease (IHD) (p = 0.695), dialysis vintage (p = 0.660), and timing of diagnosis of COVID-19 in relation to vaccination (p = 0.261). Adverse events (AEs) occurred in one-third of patients that were mild and self-limiting. No serious AEs were observed in any patient. CONCLUSION: In MHD patients, two doses of the COVISHIELDTM vaccine induced a substantial humoral response. Prior history of COVID-19 resulted in a higher antibody response. Thus, the COVISHIELDTM vaccine is efficacious and safe for use in patients with MHD. How to cite this article: Balwani MR, Pasari AS, Bawankule C, et al. Humoral Response After Two Doses of COVISHIELDTM Vaccine in Patients Undergoing Maintenance Hemodialysis. J Assoc Physicians India 2023;71(9):56-60.
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Anticuerpos Antivirales , Vacunas contra la COVID-19 , COVID-19 , Inmunidad Humoral , Diálisis Renal , Humanos , Persona de Mediana Edad , Masculino , Femenino , COVID-19/prevención & control , COVID-19/inmunología , Estudios Prospectivos , Vacunas contra la COVID-19/inmunología , Vacunas contra la COVID-19/administración & dosificación , Anticuerpos Antivirales/sangre , SARS-CoV-2/inmunología , Anciano , AdultoRESUMEN
The objective of the study was to assess clinical and histopathological profile of patients who were diagnosed as immunoglobulin A nephropathy (IgAN) on renal biopsy. Medical data were collected for this retrospective study at a single center from patients with biopsy-proven IgAN, from those biopsied between January 2017 and September 2020. A total of 347 renal biopsies were performed during the study. There were 52 patients with primary IgAN who met our inclusion criteria. Males were more commonly affected (61.5%). The mean age at the time of kidney biopsy was 35.26 ± 10.39 years. Hypertension was present in 84.5% of patients. Median serum creatinine and estimated glomerular filtration rate (eGFR) at presentation were 3.58 mg/dL and 15.8 mL/min/1.73 m2, respectively. Mesangial hypercellularity (M1), endocapillary hypercellularity (E1), segmental glomerulosclerosis (S1), tubular atrophy/ interstitial fibrosis (T1/T2), and crescents (C1/C2) were present in 46.2%, 38.5%, 88.5%, 75% and 36.6% of patients respectively. Thrombotic microangiopathy (TMA) and hypertensive vasculopathy were seen in 38.5% and 86.5% of patients respectively. The presence of tubular atrophy (T1/T2), hypertensive vasculopathy, and TMA on renal biopsy was significantly associated with low eGFR at presentation whereas no such correlation could be established with segmental glomerulosclerosis (S1), crescents (C1/C2), mesangial (M1) and endocapillary hypercellularity (E1). The presence of hypertensive vasculopathy and TMA on renal biopsy was associated with poor renal function at presentation. The most common clinical presentation of IgAN was hypertension and so we suggest patients with hypertension should be screened for microscopic dysmorphic hematuria and proteinuria, if present, should undergo a renal biopsy to diagnose this disease in early stages.
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Glomerulonefritis por IGA , Hipertensión , Microangiopatías Trombóticas , Masculino , Humanos , Adulto Joven , Adulto , Persona de Mediana Edad , Glomerulonefritis por IGA/complicaciones , Glomerulonefritis por IGA/diagnóstico , Glomerulonefritis por IGA/patología , Estudios Retrospectivos , Tasa de Filtración Glomerular , Microangiopatías Trombóticas/complicaciones , Hipertensión/epidemiología , Hipertensión/complicaciones , Atrofia , Biopsia , PronósticoRESUMEN
Spectrum of native renal biopsy reports varies geographically. Here, we tried to determine the prevalence of renal biopsy disorders and compare it with other studies. Retrospective study was performed at Saraswati Kidney Care Center, Nagpur and Jawaharlal Nehru Medical College, Sawangi, India. All the native kidney biopsies from January 2017 to March 2020 were included in the analysis. Demographic details of all the patients were recorded. Renal diseases were classified as glomerular, tubulo-interstitial, predominant vascular involvement and other disease categories. Total 347 native kidney biopsies were performed during the study period. Mean age of the patients at the time of biopsy was 41.41 ± 15.75 years. Majority of patients were males (58.5%). Most common indication for kidney biopsy was nephrotic syndrome (36.3%) followed by nephritic syndrome (19.9%). Among the glomerular diseases (GDs), 69% were primary glomerulopathies and 31% were secondary GDs. Immunoglobulin (IgA) nephropathy (30.85%) was the most common primary GD followed by membranous nephropathy (MN) (26.59%), focal segmental glomerulosclerosis (FSGS) (17.02 %) and minimal change disease (14.36 %). Among secondary glomerulopathies, lupus nephritis was the most common histopathological diagnosis (31.8%) followed by diabetic nephropathy (26.1%), amyloidosis (17%), infection related glomerulonephritis (11.3%), light chain deposition disease (4%) and anti-neutrophil cytoplasmic antibody associated vasculitis (3.4%). In tubulointerstitial disease, 33.3% had acute tubulointerstitial nephritis, whereas each 26.6% had acute tubular injury and cast nephropathy. The most prevalent diagnosis in our only study from central India was IgA nephropathy followed by MN and FSGS. Data analysis at regular intervals helps in understanding the changing trend of prevalence of native kidney disease and also gives understanding of geographical variations.
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Glomerulonefritis por IGA , Glomerulonefritis Membranosa , Glomerulonefritis , Glomeruloesclerosis Focal y Segmentaria , Enfermedades Renales , Nefritis Intersticial , Masculino , Humanos , Adulto , Persona de Mediana Edad , Femenino , Glomeruloesclerosis Focal y Segmentaria/patología , Estudios Retrospectivos , Enfermedades Renales/diagnóstico , Enfermedades Renales/epidemiología , Enfermedades Renales/patología , Glomerulonefritis/diagnóstico , Nefritis Intersticial/patología , Glomerulonefritis Membranosa/patología , Glomerulonefritis por IGA/patología , Biopsia , India/epidemiología , Riñón/patologíaRESUMEN
Tuberculosis (TB)-associated glomerulonephritis is difficult to diagnose that usually presents with hematuria, proteinuria, edema, hypertension, or renal insufficiency, which is similar to symptoms of primary glomerulonephritis. Membranous nephropathy (MN) is uncommonly seen in TB patients. We report a case of a 30-year-old female with Koch's chest who developed anti-phospholipase A2 receptor antibody-positive MN after initiation of anti-Koch's therapy and resolved after completion of anti-Koch's therapy.
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Glomerulonefritis Membranosa , Glomerulonefritis , Tuberculosis , Adulto , Autoanticuerpos , Femenino , Glomerulonefritis/diagnóstico , Glomerulonefritis Membranosa/complicaciones , Glomerulonefritis Membranosa/diagnóstico , Glomerulonefritis Membranosa/tratamiento farmacológico , Humanos , Proteinuria , Receptores de Fosfolipasa A2RESUMEN
Diabetic muscle infarction is underdiagnosed complication occurring in dialysis patients with advanced diabetes mellitus. Atherosclerotic vascular disease and long-standing diabetes are risk factors for this painful condition. Most common presenting symptom is localized pain in the affected limb. We present here a case of muscle infarction occurring in a diabetic patient on maintenance hemodialysis (HD). Our patient had low-grade fever and pain in right thigh which restricted his movements for one month. His pain worsened during and post-HD. External examination of right lower limb was normal except for tenderness in the right thigh region. Laboratory examination showed leukocytosis with normal serum creatine phosphokinase levels. Magnetic resonance imaging of the thigh was suggestive of muscle infarction. Patient was treated with bed rest, analgesics, antiplatelets and blood transfusion. HD prescription was changed to sustained low-efficiency dialysis with reduced ultrafiltration. Gradually, in a week, his fever and pain subsided and he was able to walk on his own. Thus, it is important to identify this clinical condition early in the course of illness to further prevent its progression.
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Diabetes Mellitus , Infarto , Humanos , Infarto/diagnóstico por imagen , Infarto/etiología , Imagen por Resonancia Magnética/efectos adversos , Masculino , Músculo Esquelético/diagnóstico por imagen , Músculos/irrigación sanguínea , Músculos/patología , Dolor/etiología , Diálisis Renal/efectos adversosRESUMEN
C3 glomerulopathy is usually seen with the presence of C3 nephritic factor, homozygous or heterozygous mutations in the regulatory complement proteins factor H, factor I, or C3. We describe the presence of heterozygous laminin ß2 mutation in a patient of C3 glomerulonephritis with ocular and central nervous system involvement, the significance of which is unknown.
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Glomerulonefritis Membranoproliferativa , Glomerulonefritis , Enfermedades Renales , Complemento C3/genética , Factor Nefrítico del Complemento 3 , Femenino , Glomerulonefritis/metabolismo , Humanos , Laminina , Masculino , MutaciónRESUMEN
INTRODUCTION: Hemodialysis technicians play a crucial role in infection control practices in hemodialysis units. Thus, it is important to assess the knowledge and attitude towards COVID-19 among hemodialysis technicians in this pandemic situation. MATERIALS AND METHODS: An online survey composed of 22 closed-ended questions using Google Forms was conducted in the month of April (13th to 19th) 2020. The survey consisted of questions regarding the knowledge of COVID-19 and current hemodialysis practice among hemodialysis technicians. The study was approved by the institutional ethics board. The survey was administered online through a mobile phone invitation. Basic statistics (mean and standard deviation or total number and percent) were computed for all covariates. RESULTS: Out of 150, 115 technicians participated in the survey. 80.9% of the participants were males. The mean age of respondents was 28.22 + 6.97 years. Most of the respondents could correctly identify fever (87.8%), breathlessness (86.08%), and dry cough (81.7%) as the symptoms of COVID-19 infection. 75.7% of the technicians were aware that it can be transmitted by asymptomatic persons. 61.1% of the technicians were segregating patients who had symptoms such as fever and cough to the last shift of the day. 81.1% of the technicians read the guidelines issued by the Indian Society of Nephrology-COVID-19 working group. But, only 25.5% of the respondents could rightly identify to keep a minimum distance of two meters between two beds while dialyzing a suspected patient of COVID-19 along with other patients to minimise risk of COVID-19 transmission. 60% of the technicians have received hydroxychloroquine as prophylaxis against coronavirus infection. CONCLUSION: Our study shows a significant knowledge gap among hemodialysis technicians about COVID-19. Effective COVID-19 education campaigns should be carried out intensively with relevant information among hemodialysis technicians to address the knowledge gap. A well-informed hemodialysis technician can prove to be a great tool to spread the right infection control practices among dialysis-dependent patients.
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INTRODUCTION: The coronavirus disease 2019 (COVID-19) pandemic has affected the care of patients with noncommunicable diseases, including those suffering from kidney-related ailments. Many parts of the world, including India, adopted lockdown to curb community transmission of disease. The lockdown affected transportation, access to health care facilities, and availability of medicines and consumables as well as outpatient and inpatient services. We aimed to analyze the effect of lockdown imposed due to the COVID-19 pandemic on the care of patients with kidney diseases in India. METHODS: We surveyed 19 major hospitals (8 in the public and 11 in the private sector) to determine the effect of lockdown on the care of patients with kidney disease, including those on dialysis after the first 3 weeks of lockdown. RESULTS: The total number of dialysis patients in these centers came down from 2517 to 2404. Approximately 710 (28.2%) patients missed 1 or more dialysis sessions, 69 (2.74%) required emergency dialysis sessions, 104 (4.13%) stopped reporting for dialysis, and 9 (0.36%) were confirmed to have died. Outpatient attendance in the surveyed hospital came down by 92.3%, and inpatient service reduced by 61%. Tele-consultation was started but was accessed by only a small number of patients. CONCLUSION: Lack of preparedness before lockdown resulted in an interruption in health care services and posed an immediate adverse effect on the outcome of dialysis patients and patients with kidney disease in India. The long-term impact on the health of patients with less severe forms of kidney disease remains unknown.