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BACKGROUND: Limited data, primarily from small case series, exist regarding the clinical profile, genetic variants, and outcomes of WDR72-associated distal renal tubular acidosis (WDR72-dRTA). METHODS: Our study enrolled children diagnosed with WDR72-dRTA below 18 years of age from 9 Indian centers and analyzed their clinical characteristics, genetic profiles, and outcomes. Potential genotype-phenotype correlations were explored. RESULTS: We report 22 patients (59% female) with WDR72-dRTA who were diagnosed at a median age of 5.3 (3, 8) years with polyuria (n = 17; 77.3%), poor growth (16; 72.7%), and rickets (9; 40.9%). Amelogenesis imperfecta was present in 21 (95.5%) cases. At presentation, all patients had normal anion gap metabolic acidosis; hypokalemia and nephrocalcinosis were seen in 17 (77.3%) patients each. Seven (31.8%) patients had concomitant proximal tubular dysfunction. Genetic analysis identified biallelic nonsense variants in 18 (81.8%) patients, including novel variants in 6 cases. A previously reported variant, c.88C > T, and a novel variant, c.655C > T, were the most frequent variants, accounting for 10 (45.5%) cases. Over a median follow-up of 1.3 (1, 8) years, the height velocity improved by 0.74 (0.2, 1.2) standard deviation scores, while 3 children (13.6%) progressed to chronic kidney disease (CKD) stage 2, with eGFR ranging from 67 to 76 mL/min/1.73 m2, respectively, after 11.3-16 years of follow-up. No specific genotype-phenotype correlation could be established. CONCLUSIONS: WDR72-dRTA should be considered in children with typical features of amelogenesis imperfecta and dRTA. Biallelic nonsense variants are common in Asians. While most patients respond well to treatment with improved growth and preserved eGFR, on long-term follow-up, a decline in eGFR may occur.
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An 11-year-old male child who presented with increased frequency of urination, thirst and feeling of incomplete void was initially diagnosed with diabetes mellitus (DM) based on elevated blood sugar. Polyuria and polydipsia were confirmed even after normalisation of blood sugar. A standardised water deprivation test showed presence of central diabetes insipidus (DI) and patient was started on desmopressin. Presence of DM and DI led to suspicion of DIDMOAD/Wolfram syndrome and ophthalmic examination confirmed bilateral optic atrophy. Despite treatment for DM and DI the urinary complaints persisted, and ultrasound showed persistent bilateral hydronephroureterosis. Bladder workup including voiding cystourethrography (VCUG) and urodynamic study reported thickened trabeculated bladder wall along with overactivity, poor compliance and high bladder pressure. Bladder dysfunction has been documented to be associated with Wolfram syndrome and often may lead to chronic kidney disease which can be prevented by early diagnosis and appropriate management. The case highlights the need for comprehensive evaluation of children with urinary symptoms.
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BACKGROUND: Levamisole is less expensive and has a better toxicity profile compared to other steroid sparing agents used in nephrotic syndrome. It has a plasma half-life of 2.0 to 5.6 hours, but is conventionally administered on alternate days. We aimed to assess whether daily levamisole is safe and more effective than standard alternate-day therapy in maintaining remission in children with frequently relapsing or steroid-dependent nephrotic syndrome (FR/SDNS). METHODS: An open-label randomized controlled trial was conducted in children with FR/SDNS. Group A received daily while Group B received alternate-day levamisole (2-3 mg/kg/dose) for 12 months. Prednisolone was tapered off by 3 months. Patients were monitored for relapses, further steroid requirement, and adverse effects. RESULTS: A total of 190 children with FR/SDNS (94 in Group A and 96 in Group B) were analyzed. Sustained remission for 12 months was observed in 36% of Group A and 27% of Group B patients (p = 0.18). Numbers completing 12 months in the study were 67% in Group A and 56% in Group B (p = 0.13). Time to first relapse, persistent FR/SDNS, and withdrawal due to poor compliance were statistically similar in both groups, while relapse rate and cumulative steroid dosage were significantly lower in Group A compared to Group B (p = 0.03 and p = 0.02, respectively). The incidence of adverse effects was comparable in both groups, with reversible leucopenia and hepatic transaminitis being the commonest. CONCLUSIONS: Daily levamisole therapy was not superior to alternate-day therapy in maintaining sustained remission over 12 months. Nevertheless, relapse rate and cumulative steroid dosage were significantly lower without increased adverse effects.
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Levamisol , Síndrome Nefrótico , Recurrencia , Humanos , Levamisol/administración & dosificación , Levamisol/efectos adversos , Síndrome Nefrótico/tratamiento farmacológico , Masculino , Femenino , Niño , Preescolar , Resultado del Tratamiento , Esquema de Medicación , Inducción de Remisión/métodos , Prednisolona/administración & dosificación , Prednisolona/efectos adversos , Prednisolona/uso terapéutico , Adolescente , Glucocorticoides/administración & dosificación , Glucocorticoides/efectos adversosRESUMEN
BACKGROUND: Levamisole is a commonly used steroid-sparing agent (SSA), but the reported incidence of antineutrophil cytoplasmic antibody (ANCA) positivity has been concerning. METHODS: Observational cross-sectional study wherein children aged 2 to 18 years with frequently relapsing/steroid dependent nephrotic syndrome (FRNS/SDNS) on levamisole for ≥ 12 months were tested for ANCA. RESULTS: A total of 210 children (33% female), median age of 7.3 (IQR: 5.6-9.6) years, and a median duration of levamisole exposure of 21 (IQR: 15-30) months were tested. ANCA was positive in 18% (n = 37): 89% (n = 33) perinuclear ANCA (pANCA), 3% (n = 1) cytoplasmic ANCA (cANCA), and 8% (n = 3) both. Of ANCA-positive children, none had reduced eGFR or abnormal urinalysis. The majority of these children were asymptomatic (81%, n = 30). Rash was more common among ANCA-positive children [6/37 (16%) vs. 3/173 (2%), p = 0.0001]. On multivariate analysis, higher age (OR = 1.02, [95th CI: 1.01 to 1.03], p = 0.007) and longer duration of levamisole exposure (OR = 1.05, [95th CI: 1.02 to 1.08], p = 0.0007) were associated with ANCA positivity. Levamisole was stopped in ANCA-positive children with the resolution of any clinical manifestations if present. Repeat ANCA testing was performed in 54% (20/37), and all were ANCA negative by 18 months. CONCLUSIONS: Children with FRNS/SDNS on longer duration of levamisole were associated with increasing prevalence of ANCA positivity, but most of these children were clinically asymptomatic. Prospective studies are required to determine the chronology of ANCA positivity and its clinical implication.
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Anticuerpos Anticitoplasma de Neutrófilos , Levamisol , Síndrome Nefrótico , Humanos , Levamisol/efectos adversos , Niño , Femenino , Masculino , Estudios Transversales , Anticuerpos Anticitoplasma de Neutrófilos/sangre , Anticuerpos Anticitoplasma de Neutrófilos/inmunología , Síndrome Nefrótico/tratamiento farmacológico , Síndrome Nefrótico/inmunología , Síndrome Nefrótico/sangre , Preescolar , Adolescente , Estudios de CohortesRESUMEN
BACKGROUND: Pediatric acute kidney injury (AKI) is a global health concern with an associated mortality risk disproportionately pronounced in resource-limited settings. There is a pertinent need to understand the epidemiology of pediatric AKI in vulnerable populations. Here, we proposed a prospective study to investigate the epidemiology and associated risk factors of "severe dialysis dependent AKI" in children among South Asian nations which would be the first and largest of its kind. METHODS: The ASPIRE study (part of PCRRT-ICONIC Foundation initiative) is a multi-center, prospective observational study conducted in South Asian countries. All children and adolescents ≤ 18 years of age who required dialysis for AKI in any of the collaborating medical centers were enrolled. Data collection was performed until one of the following endpoints was observed: (1) discharge, (2) death, and (3) discharge against medical advice. RESULTS: From 2019 to 2022, a total of 308 children with severe AKI were enrolled. The mean age was 6.17 years (63% males). Secondary AKI was more prevalent than primary AKI (67.2%), which predominantly occurred due to infections, dehydration, and nephrotoxins. Common causes of primary AKI were glomerulonephritis, hemolytic uremic syndrome, lupus nephritis, and obstructive uropathy. Shock, need for ventilation, and coagulopathy were commonly seen in children with severe AKI who needed dialysis. The foremost kidney replacement therapy used was peritoneal dialysis (60.7%). The mortality rate was 32.1%. CONCLUSIONS: Common causes of AKI in children in South Asia are preventable. Mortality is high among these children suffering from "severe dialysis dependent AKI." Targeted interventions to prevent and identify AKI early and initiate supportive care in less-resourced nations are needed.
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BACKGROUND: Immunoglobulin A vasculitis with nephritis (IgAVN) is the most common vasculitis in children. Due to a lack of evidence, treatment recommendations are based on expert opinion, resulting in variation. The aim of this study was to describe the clinical presentation, treatment and outcome of an extremely large cohort of children with biopsy-proven IgAVN in order to identify prognostic risk factors and signals of treatment efficacy. METHODS: Retrospective data were collected on 1148 children with biopsy-proven IgAVN between 2005 and 2019 from 41 international paediatric nephrology centres across 25 countries and analysed using multivariate analysis. The primary outcome was estimated glomerular filtration rate (eGFR) and persistent proteinuria at last follow-up. RESULTS: The median follow-up was 3.7 years (interquartile range 2-6.2). At last follow-up, 29% of patients had an eGFR <90 mL/min/1.73 m2, 36% had proteinuria and 3% had chronic kidney disease stage 4-5. Older age, lower eGFR at onset, hypertension and histological features of tubular atrophy and segmental sclerosis were predictors of poor outcome. There was no evidence to support any specific second-line immunosuppressive regimen being superior to others, even when further analysing subgroups of children with reduced kidney function, nephrotic syndrome or hypoalbuminemia at onset. Delayed start of immunosuppressive treatment was associated with a lower eGFR at last follow-up. CONCLUSION: In this large retrospective cohort, key features associated with disease outcome are highlighted. Importantly, there was no evidence to support that any specific immunosuppressive treatments were superior to others. Further discovery science and well-conducted clinical trials are needed to define accurate treatment and improve outcomes of IgAVN.
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Tasa de Filtración Glomerular , Inmunosupresores , Humanos , Masculino , Niño , Femenino , Estudios Retrospectivos , Adolescente , Inmunosupresores/uso terapéutico , Preescolar , Pronóstico , Glomerulonefritis por IGA/tratamiento farmacológico , Glomerulonefritis por IGA/patología , Estudios de Seguimiento , Terapia de Inmunosupresión/métodos , Vasculitis por IgA/tratamiento farmacológico , Vasculitis por IgA/complicaciones , Vasculitis por IgA/diagnóstico , Resultado del Tratamiento , Vasculitis/tratamiento farmacológicoRESUMEN
Introduction Subacromial impingement syndrome (SIS) is a common shoulder disorder characterized by pain and limited range of motion in the shoulder joint. It is frequently attributed to the compression or impingement of the rotator cuff tendons and bursa between the humeral head and the acromion process of the scapula during arm elevation. Subacromial impingement syndrome may arise as a result of the morphology of the acromion process, a bony protrusion at the top of the scapula that is important in the biomechanics of the shoulder joint. In order to detect potential anatomical differences that can predispose people to subacromial impingement syndrome, medical professionals and researchers need to have a thorough understanding of the morphometry and morphology of the acromion process. Aims and objectives The aim of the present study was to measure the morphometric and morphological characteristics of the acromion process in dried human scapulae that belonged to the North Indian population. Materials and methods This was a cross-sectional study that was carried out on 120 undamaged adult human scapula, of which 52 belonged to the right side and 68 belonged to the left side. Our study focused on analyzing the morphology of the acromion process as well as determining its maximum length, maximum breadth, acromio-coracoid distance, acromio-glenoid distance, and thickness. A statistical analysis of the observed parameters was carried out using the chi-square test and independent t-test with the help of Statistical Package for the Social Sciences (SPSS, IBM Corp., Armonk, NY) 24.0. Statistical significance was set at 0.05 (if the P-value ≤ 0.05, it is significant). Results We observed that the quadrangular shape (51.67%) of the acromion process was most commonly reported in our study, while the tubular (9.99%) shape was the least common. The difference in the incidences of various shapes of the acromion process on the right and left sides of the scapula was found to be statistically significant (p-value ≤ 0.05). In this study, the curved or type II acromion process was the most common type (53.34%) observed, while the least common shape reported was the hooked type (18.33%). The average length of the right acromion process was 44.52±6.61 mm, and the left acromion process was 45.13±6.35 mm. For the breadth, the right acromion had an average value of 28.31±4.67 mm, while the left had an average of 28.34±4.92 mm. The thickness of the right acromion measured 7.10±1.73 mm, and the left acromion was 7.53±1.44 mm. The acromio-coracoid distance on the right side was 34.59 ± 6.47 mm, and the left side was 37.46±6.22 mm. The acromio-glenoid distance was measured to be 32.31±5.87 mm on the right side and 33.18±5.39 mm on the left side. Conclusions Planning and carrying out an acromioplasty require an understanding of the morphometric parameters of the acromion process. Although there is a paucity of research on its morphometric evaluation in the North Indian population, the surgeons would be able to use these data as a reference.
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Understanding the spatiotemporal dynamics of river water chemistry from its source to sinks is critical for constraining the origin, transformation, and "hotspots" of contaminants in a river basin. To provide new spatiotemporal constraints on river chemistry, dissolved trace element concentrations were measured at 17 targeted locations across the Ramganga River catchment. River water samples were collected across three seasons: pre-monsoon, monsoon, and post-monsoon between 2019 and 2021. To remove the dependency of trace element concentrations on discharge, we used molar ratios, as discharge data on Indian transboundary rivers are not publicly available. The dataset reveals significant spatiotemporal variability in dissolved trace element concentrations of the Ramganga River. Samples collected upstream of Moradabad, a major industrial city in western Uttar Pradesh, are characterized by ~ 1.2-2.5 times higher average concentrations of most of the trace elements except Sc, V, Cr, Rb, and Pb, likely due to intense water-rock interactions in the headwaters. Such kind of enrichment in trace metal concentrations was also observed at sites downstream of large cities and industrial centers. However, such enrichment was not enough to bring a major change in the River Ganga chemistry, as the signals got diluted downstream of the Ramganga-Ganga confluence. The average river water composition of the Ramganga River was comparable to worldwide river water composition, albeit a few sites were characterized by very high concentrations of dissolved trace elements. Finally, we provide an outlook that calls for an assessment of stable non-traditional isotopes that are ideally suited to track the origin and transformation of elements such as Li, Mg, Ca, Ti, V, Cr, Fe, Ni, Cu, Zn, Sr, Ag, Cd, Sn, Pt, and Hg in Indian rivers.
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Monitoreo del Ambiente , Oligoelementos , Ríos , Agua Dulce , India , AguaRESUMEN
BACKGROUND: We present clinical, biochemical, and histopathological characteristics and treatment outcomes of biopsy proven childhood lupus nephritis (LN) from a low/middle income setting treated in the current era of increased use of Mycophenolate Mofetil (MMF) and biologics. METHODS: Retrospective observational study of children (1-18 years) with biopsy proven LN treated from 01.01.2010 to 31.01.2020. RESULTS: 60 children met our inclusion criteria (80%, n = 48 were females). The median age at diagnosis was 11 (IQR: 9-12) years. The most common extra-renal manifestation was mucocutaneous (n = 54, 90%) and the most common kidney manifestation was edema (n = 50, 83.3%). The median 24-h urinary protein excretion was 1117.8 (IQR: 795.4-1941.7) mg/m2/day with 67% (n = 40) having nephrotic range proteinuria (>1000 mg/m2/day). 75% (n = 45) children had eGFR <90 mL/min/1.73 m2 (median eGFR = 71; IQR: 56-90 mL/min/1.73 m2). Anti-Nuclear Antibody was positive in all, both complement three and four were low in 82% (n = 49) and anti-double stranded DNA antibodies were positive in 63% (n = 38). 85% (n = 51) had proliferative LN with majority being class IV (57%, n = 34). All children received steroids for induction therapy. MMF was given as the sole induction agent in 48% (n = 29) and cyclophosphamide in 27% (n = 16). Rituximab was added in 17% (n = 10) as a rescue agent. Median follow up duration was 50 (IQR: 28-82) months. Six children (10%) died as a result of serious infections and none of them had shown complete response (CR). Out of the 52 children who had a follow up duration of at least 2 years, CR was achieved in 46 children (88%) and partial response (PR) or no response (NR) in three children (6%) each. Although children who were in CR/PR at last follow up had lower proteinuria, higher eGFR, and lower histopathology activity index at onset; low numbers in the NR group precluded us from subjecting them to any statistical correlation tests. 36% (n = 22) of children developed 36 episodes of renal flares with overall incidence of 0.14/person-year. CONCLUSION: Our study on a contemporary cohort of childhood LN highlights the importance of achieving CR and its feasibility.
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Lupus Eritematoso Sistémico , Nefritis Lúpica , Niño , Femenino , Humanos , Masculino , Ciclofosfamida/uso terapéutico , Inmunosupresores/uso terapéutico , Lupus Eritematoso Sistémico/tratamiento farmacológico , Nefritis Lúpica/diagnóstico , Nefritis Lúpica/tratamiento farmacológico , Nefritis Lúpica/epidemiología , Ácido Micofenólico/uso terapéutico , Proteinuria/etiología , Proteinuria/tratamiento farmacológico , Inducción de Remisión , Estudios Retrospectivos , Resultado del Tratamiento , Lactante , Preescolar , AdolescenteRESUMEN
Introduction: Invasive urodynamics (UDS) is a standard investigation in children. Studies measuring voiding pressures in children use varied nomenclatures and quote a wide range of voiding pressures. Thus, voiding pressures in children are not considered reliable and they do not find any place in the pediatric diagnostic armamentarium. On the contrary, adult studies have well-defined nomograms and standard values which make voiding studies indispensable in the diagnosis of voiding dysfunctions in adults. The difference primarily lies in the uniformity of parameters assessed in adults and the contrasting heterogeneity in the pediatric literature. Objective: The objective of this study was to study the voiding parameters observed during UDS in boys. Study Design: We retrospectively reviewed the pressure flow data obtained during conventional invasive UDS in 106 neurologically normal boys (6 months-16 years) who had different indications for urodynamics. The values of Pdetmax and PdetQmax were analyzed and compared with the existing data of pressure flow studies in children. Results: Pdetmax decreased with age whereas PdetQmax was independent of age. The difference between the values of Pdetmax and PdetQmax was more in the younger kids. The wide range of voiding detrusor pressure (Pdet) in the existing pediatric literature is similar to the values of Pdetmax observed in our study, whereas the value of PdetQmax is much lower. Discussion: The values of Pdetmax observed in this study are similar to the values of "maximum Pdet during voiding" documented in previous studies and are determined by detrusor contractility and functional/dynamic contraction of outflow during voiding. PdetQmax has been documented in very few pediatric studies and is significantly less than Pdetmax. Further prospective studies are needed to corroborate UDS findings with radiologic/cystoscopic findings to create nomograms of voiding parameters in children. Conclusion: Existing literature on pediatric voiding studies mentions voiding pressures during variable phases of void (usually Pdetmax) and the values have been very heterogeneous, making voiding pressure-flow studies unreliable in children. PdetQmax values are much lower than values quoted as "standard" pressures and are age independent. The use of PdetQmax instead of PdetMax may make voiding pressures in children more reproducible and informative.
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BACKGROUND: Early morning single-dose prednisolone has a hypothetical advantage of less hypothalamic-pituitary-adrenal (HPA) axis suppression, but lack of robust evidence has resulted in variation in practice, with divided-dose prednisolone still commonly used. We conducted this open-label randomized control trial to compare HPA axis suppression between single-dose or divided-dose prednisolone among children with first episode of nephrotic syndrome. METHODS: Sixty children with first episode of nephrotic syndrome were randomized (1:1) to receive prednisolone (2 mg/kg per day), either as single or two divided doses for 6 weeks, followed by single alternative daily dose of 1.5 mg/kg for 6 weeks. The Short Synacthen Test was conducted at 6 weeks, with HPA suppression defined as postadrenocorticotropic hormone cortisol <18 µ mg/dl. RESULTS: Four children (single=1 and divided dose=3) did not attend the Short Synacthen Test and were hence excluded from analysis. Remission was induced in all, and no relapse postremission was noted during the 6+6 weeks of steroid therapy. After 6 weeks of daily steroids, HPA suppression was greater in divided (100%) versus single dose (83%) ( P = 0.02). Time to remission and final relapse rates were similar, but for those children who relapsed within 6 months of follow-up period, time to first relapse was shorter for divided dose (median 28 versus 131 days) P = 0.002. CONCLUSIONS: Among children with first episode of nephrotic syndrome, single-dose and/or divided-dose prednisolone were equally effective in inducing remission with similar relapse rates, but single dose had less HPA suppression and longer time to first relapse. CLINICAL TRIAL REGISTRY NAME AND REGISTRATION NUMBER: CTRI/2021/11/037940. PODCAST: This article contains a podcast at https://dts.podtrac.com/redirect.mp3/www.asn-online.org/media/podcast/CJASN/2023_10_09_CJN0000000000000216.mp3.
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Síndrome Nefrótico , Prednisolona , Niño , Humanos , Prednisolona/efectos adversos , Síndrome Nefrótico/tratamiento farmacológico , Glucocorticoides/uso terapéutico , Sistema Hipotálamo-Hipofisario , Sistema Hipófiso-Suprarrenal , RecurrenciaRESUMEN
A multicenter retrospective study was conducted to assess the clinical spectrum of 30 severe acute respiratory syndrome coronavirus (SARS-CoV-2)-positive children with idiopathic nephrotic syndrome. Difficult to treat nephrotic syndrome was found to be a high-risk group with a high incidence of acute kidney injury and mortality.
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COVID-19 , Síndrome Nefrótico , Niño , Humanos , Síndrome Nefrótico/complicaciones , SARS-CoV-2 , Estudios RetrospectivosRESUMEN
Acute kidney injury (AKI) is a known independent risk factor for morbidity/mortality but there is scarcity of robust data on it among childhood nephrotic syndrome (NS). We assessed the incidence of AKI among hospitalized children with NS as well as looked for any significant risk factors. Prospective observational study conducted across two tertiary pediatric hospitals in Eastern India from September 2020 to August 2021. Children aged 1-18 years admitted with NS and without any nephritic features or pre-existing chronic kidney disease (CKD) were included. In 200 admissions (n = 176; 63% female, median age 4 years [IQR: 3-7]), AKI occurred in 36 (18%; 95% CI 13 to 36%). Two children required kidney replacement therapy and one death was recorded. In 27/36 (75%), AKI resolved within 48 h, 4 had persistent AKI, 3 acute kidney disease, and two progressed to CKD. On multivariate regression analysis: fractional excretion of sodium ≤ 0.2% (OR 12.77; 95% CI 3.5-46.4), male gender (OR 6.38; 95% CI 2.76-14.74), underlying infection (OR 5.44; 95% CI 2.4-11.86), nephrotoxic drugs (OR 4.83; 95% CI 2.21-10.54), and albumin ≤ 1.4 g/dl (OR 4.35; 95% CI 1.55-12.8) were associated with AKI. A predictive equation using these five variables on admission had high AUC (0.86) in correctly identifying 17 children who subsequently developed AKI. Conclusion: In a low resource setting, AKI is common among hospitalized children with NS. Larger multi-center prospective studies are needed to refine prediction equations and test its utility in preventing AKI development. What is Known: ⢠Acute Kidney Injury is a known independent risk factor for increased morbidity and mortality. ⢠There are few studies to assess the incidence of Acute kidney injury in hospitalised cases of childhood nephrotic syndrome.. What is New: ⢠This is the largest prospective cohort of children suffering from nephrotic syndrome, in India, proposing a novel algorithm for predicting the risk of AKI among hospitalised cases of childhood nephrotic syndrome.
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Lesión Renal Aguda , Síndrome Nefrótico , Insuficiencia Renal Crónica , Niño , Humanos , Masculino , Femenino , Preescolar , Incidencia , Síndrome Nefrótico/complicaciones , Síndrome Nefrótico/epidemiología , Estudios Prospectivos , Factores de Riesgo , Lesión Renal Aguda/epidemiología , Lesión Renal Aguda/etiología , Lesión Renal Aguda/terapia , Insuficiencia Renal Crónica/complicaciones , Estudios RetrospectivosRESUMEN
While 44-83% of children with steroid-resistant nephrotic syndrome (SRNS) without a proven genetic cause respond to treatment with a calcineurin inhibitor (CNI), current guidelines recommend against the use of immunosuppression in monogenic SRNS. This is despite existing evidence suggesting that remission with CNI treatment is possible and can improve prognosis in some cases of monogenic SRNS. Herein, our retrospective study assessed response frequency, predictors of response and kidney function outcomes among children with monogenic SRNS treated with a CNI for at least three months. Data from 203 cases (age 0-18 years) were collected from 37 pediatric nephrology centers. Variant pathogenicity was reviewed by a geneticist, and 122 patients with a pathogenic and 19 with a possible pathogenic genotype were included in the analysis. After six months of treatment and at last visit, 27.6% and 22.5% of all patients respectively, demonstrated partial or full response. Achievement of at least partial response at six months of treatment conferred a significant reduction in kidney failure risk at last follow-up compared to no response (hazard ratio [95% confidence interval] 0.25, [0.10-0.62]). Moreover, risk of kidney failure was significantly lower when only those with a follow-up longer than two years were considered (hazard ratio 0.35, [0.14-0.91]). Higher serum albumin level at CNI initiation was the only factor related to increased likelihood of significant remission at six months (odds ratio [95% confidence interval] 1.16, [1.08-1.24]). Thus, our findings justify a treatment trial with a CNI also in children with monogenic SRNS.
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Síndrome Nefrótico , Podocitos , Insuficiencia Renal , Niño , Humanos , Recién Nacido , Lactante , Preescolar , Adolescente , Síndrome Nefrótico/tratamiento farmacológico , Síndrome Nefrótico/genética , Síndrome Nefrótico/patología , Inhibidores de la Calcineurina/efectos adversos , Inmunosupresores/efectos adversos , Estudios Retrospectivos , Podocitos/patología , Insuficiencia Renal/inducido químicamenteRESUMEN
BACKGROUND: Despite its utility, uncertainty exists on the feasibility of acute peritoneal dialysis (PD) and optimal PD catheter type for very low birth weight (VLBW < 1500 g) and extremely low birth weight (ELBW < 1000 g) infants. We hereby report our experience of acute PD among these high-risk infants and compare the outcome between stylet-based rigid catheter (SRC) and Cook Mac-Loc Multipurpose Drainage catheters® (CMMDC). METHODS: Case notes of infants < 1500 g undergoing PD between 2012 and 2021 in a network of five participating neonatal units supported by a tertiary paediatric nephrology centre in Kolkata, India, were retrospectively reviewed. PD was conducted either with SRC or after 2018 with CMMDC. Outcome parameters included complications, survival during PD, and survival to discharge. RESULTS: 24 infants (VLBW: n = 13 and ELBW: n = 11) underwent PD at median age 4.5 days (IQR 3-6) with either CMMDC (n = 14) or SRC (n = 10). Significant improvement in biochemical parameters and fluid removal was seen in both ELBW and VLBW infants. CMMDC was associated with significantly fewer PD-related complications 7/14 (50%) vs. 9/10 (90%) (p = 0.04) and higher survival during PD 13/14 (93%) vs. 5/10 (50%) (p = 0.02), without significant difference in survival to hospital discharge 8/14 (57%) vs. 3/10 (30%) (p = 0.25). CMMDC also enabled longer duration of PD, higher ultrafiltration, and better control of acidosis. Consumable cost was higher for CMMDC (USD$60) than SRC (USD$14). CONCLUSIONS: In a low resource setting, CMMDC had lower PD complications and superior short-term survival among ELBW/VLBW infants. A higher resolution version of the Graphical abstract is available as Supplementary information.