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Introduction: Diet, chronic kidney disease (CKD), and Apolipoprotein L1 (APOL1) (DCA) Study is examining the role of dietary factors in CKD progression and APOL1 nephropathy. We describe enrollment and retention efforts and highlight facilitators and barriers to enrollment and operational challenges, as well as accommodations made in the study protocol. Methods: The DCA study is enrolling participants in 7 centers in West Africa. Participants who consented were invited to complete dietary recalls and 24-hour urine collections in year 1. We conducted focus groups and semistructured interviews among study personnel to identify facilitators and barriers to enrollment as well as retention and operational challenges in the execution of the study protocol. We analyzed emerging themes using content analyses. Results: A total of 712 participants were enrolled in 18 months with 1256 24-hour urine and 1260 dietary recalls. Barriers to enrollment were the following: (i) a lack of understanding of research, (ii) the burden of research visits, and (iii) incorporating cultural and traditional nuances when designing research protocols. Factors facilitating enrollment were the following: (i) designing convenient research visits, (ii) building rapport and increased communication between the research team and participants, and (iii) cultural sensitivity - adapting research protocols for the populations involved. Offering home visits, providing free dietary counseling, reducing the volume of study blood collection, and reducing the frequency of visits were some changes made in the study protocol that increased participant satisfaction. Conclusion: Adopting a participant-centered approach with accommodations in the protocol for cultural adaptability and incorporating participant feedback is vital for carrying out research in low-income and middle-income regions.
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Arrhythmias refer to disturbances in heart rate or rhythm which leads to heart rates that are abnormally fast, slow or irregular. Rhythm abnormalities may be common among Nigerian children but there are only a few reports. The current write up is a clinical review of eight patients in various age groups including neonates, infants and older children. It is presented to highlight the different forms of arrhythmias that can occur in children, with varying underlying aetiology, thus, stressing the need for early recognition of arrhythmias in children, appropriate early intervention and challenges involved in their care.
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Peripheral arterial disease (PAD) is the least studied complication of nephrotic syndrome (NS). Risk factors which predispose children with NS to developing PAD include hyperlipidaemia, hypertension and prolonged use of steroids. The development of PAD significantly increases the morbidity and mortality associated with NS as such children are prone to sudden cardiac death. The ankle brachial index (ABI) is a tool that has been proven to have high specificity and sensitivity in detecting PAD even in asymptomatic individuals. We aimed to determine the prevalence of PAD in children with NS and to identify risk factors that can independently predict its development. A comparative cross-sectional study was conducted involving 200 subjects (100 with NS and 100 apparently healthy comparative subjects that were matched for age, sex and socioeconomic class). Systolic blood pressures were measured in all limbs using the pocket Doppler machine (Norton Doppler scan machine). ABI was calculated as a ratio of ankle to arm systolic blood pressure. PAD was defined as ABI less than 0.9. The prevalence of PAD was significantly higher in children with NS than matched comparison group (44.0% vs 6.0%, p < 0.001). Average values of waist and hip circumference were significantly higher in subjects with PAD than those without PAD (61.68± 9.1cm and 67.6± 11.2 cm vs 57.03 ± 8.3cm and 65.60± 12.5cm respectively, p< 0.005). Serum lipids (triglyceride, very low density lipoprotein, total cholesterol and low density lipoprotein) were also significantly higher in subjects with PAD than those without PAD [106.65mg/dl (67.8-136.7) vs 45.72mg/dl (37.7-61.3), 21.33mg/dl (13.6-27.3) vs 9.14mg/dl (7.5-12.3), 164.43mg/dl (136.1-259.6) vs 120.72mg/dl (111.1-142.1) and 93.29mg/dl (63.5-157.3) vs 61.84mg/dl (32.6-83.1), respectively p< 0.05]. Increasing duration since diagnosis of NS, having a steroid resistant NS and increasing cumulative steroid dose were independent predictors of PAD in children with NS; p< 0.05 respectively. With these findings, it is recommended that screening for PAD in children with NS should be done to prevent cardiovascular complications before they arise.
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Síndrome Nefrótico , Enfermedad Arterial Periférica , Índice Tobillo Braquial , Niño , Estudios Transversales , Humanos , Síndrome Nefrótico/complicaciones , Síndrome Nefrótico/epidemiología , Enfermedad Arterial Periférica/complicaciones , Enfermedad Arterial Periférica/diagnóstico , Enfermedad Arterial Periférica/epidemiología , Prevalencia , Factores de RiesgoRESUMEN
Advances in kidney genomics in the past 20 years has opened the door for more precise diagnosis of kidney disease and identification of new and specific therapeutic agents. Despite these advances, an imbalance exists between low-resource and affluent regions of the world. Individuals of European ancestry from the United States, United Kingdom, and Iceland account for 16% of the world's population, but represent more than 80% of all genome-wide association studies. South Asia, Southeast Asia, Latin America, and Africa together account for 57% of the world population but less than 5% of genome-wide association studies. Implications of this difference include limitations in new variant discovery, inaccurate interpretation of the effect of genetic variants in non-European populations, and unequal access to genomic testing and novel therapies in resource-poor regions. It also further introduces ethical, legal, and social pitfalls, and ultimately may propagate global health inequities. Ongoing efforts to reduce the imbalance in low-resource regions include funding and capacity building, population-based genome sequencing, population-based genome registries, and genetic research networks. More funding, training, and capacity building for infrastructure and expertise is needed in resource-poor regions. Focusing on this will ensure multiple-fold returns on investments in genomic research and technology.
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Estudio de Asociación del Genoma Completo , Insuficiencia Renal Crónica , Humanos , Estados Unidos , América Latina , África/epidemiología , Genómica , Insuficiencia Renal Crónica/genéticaRESUMEN
The burden of chronic kidney disease (CKD) has increased exponentially worldwide but more so in low- and middle-income countries. Specific risk factors in these regions expose their populations to an increased risk of CKD, such as genetic risk with APOL1 among populations of West African heritage or farmers with CKD of unknown etiology that spans various countries across several continents to immigrant/indigenous populations in both low- and high-income countries. Low- and middle-income economies also have the double burden of communicable and noncommunicable diseases, both contributing to the high prevalence of CKD. The economies are characterized by low health expenditure, sparse or nonexistent health insurance and welfare programs, and predominant out-of-pocket spending for medical care. This review highlights the challenges in populations with CKD from low-resource settings globally and explores how health systems can help ameliorate the CKD burden.
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Insuficiencia Renal Crónica , Humanos , Insuficiencia Renal Crónica/epidemiología , Insuficiencia Renal Crónica/genética , Factores de Riesgo , Prevalencia , Apolipoproteína L1/genéticaRESUMEN
BACKGROUND: Correction of vitamin D deficiency through administration of either vitamin D2 or D3 has been shown to reduce chronic bone pains and frequency of acute bone pains, increase bone density as well as improve growth stature in children with sickle cell anemia (SCA). Findings vary on the effectiveness of the two forms of the vitamin. The current study was carried out to compare the effectiveness of a 6-week treatment course of vitamin D2 and D3 in the correction of hypovitaminosis D (vitamin D insufficiency and deficiency) as well as evaluate treatment response to derangement of serum calcium and alkaline phosphatase (ALP) in children with SCA in steady state. METHODS: The study was a randomized, double-blind clinical trial of 174 children with SCA aged 1 - 18 years. Subjects with hypovitaminosis D (baseline serum 25-hydroxyvitamin D (25(OH)D) below 75 nmol/L) were randomized into two treatment arms. Each arm treated either of the two forms of vitamin D had a once weekly dose of 50,000 IU for a period of 6 weeks. RESULTS: Median rise in serum 25(OH)D after 6 weeks of oral vitamin D2 or D3 was similar between the two groups (median rise in 25(OH)D of 17.8 nmol/L in D2, 15.3 nmol/L in D3 groups). Also, there was no significant difference in the proportion of subjects that improved in their vitamin D status in both treatment arms (P = 0.409). Treatment was significantly associated with increase in proportion of subjects with normal serum calcium (P ≤ 0.001) and decrease in proportion of subjects with elevated serum ALP (P ≤ 0.001). CONCLUSION: Once weekly dose (50,000 IU) of either vitamin D supplement has equal effectiveness in correction of hypovitaminosis D. However, vitamin D3 may be cost-effective because it is cheaper.
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Background: Childhood nephrotic syndrome, if left untreated, leads to progressive kidney disease or death. We quantified the prevalence of steroid-sensitive nephrotic syndrome, steroid-resistant nephrotic syndrome, and histological types as the epidemiology of nephrotic syndrome in Africa remains unknown, yet impacts outcomes. Methods: We searched MEDLINE, Embase, African Journals Online, and WHO Global Health Library for articles in any language reporting on childhood nephrotic syndrome in Africa from January 1, 1946 to July 1, 2020. Primary outcomes included steroid response, biopsy defined minimal change disease, and focal segmental glomerulosclerosis (FSGS) by both pooled and individual proportions across regions and overall. Findings: There were 81 papers from 17 countries included. Majority of 8131 children were steroid-sensitive (64% [95% CI: 63-66%]) and the remaining were steroid-resistant (34% [95% CI: 33-35%]). Of children biopsied, pathological findings were 38% [95% CI: 36-40%] minimal change, 24% [95% CI: 22-25%] FSGS, and 38% [95% CI: 36-40%] secondary causes of nephrotic syndrome. Interpretation: Few African countries reported on the prevalence of childhood nephrotic syndrome. Steroid-sensitive disease is more common than steroid-resistant disease although prevalence of steroid-resistant nephrotic syndrome is higher than reported globally. Pathology findings suggest minimal change and secondary causes are common. Scarcity of data in Africa prevents appropriate healthcare resource allocation to diagnose and treat this treatable childhood kidney disease to prevent poor health outcomes. Funding: Funding was provided by the Canadian Institute for Health Research (CIHR) and the National Institute of Health (NIH) for the H3 Africa Kidney Disease Research Network. This research was undertaken, in part, from the Canada Research Chairs program.
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BACKGROUND: Recent reports from small studies in West Africa suggest that Black children may have high rate of steroid sensitivity nephrotic syndrome (SSNS) contrary to long held knowledge. Herein, we determined the proportion of children with idiopathic nephrotic syndrome (INS) who achieved complete remission with steroid therapy and identified factors associated with complete remission. METHODS: We reviewed the medical records of 241 children with INS in two centres in Lagos from 2010 to 2019. We extracted demographic data, clinical features, laboratory values at the time of diagnosis, and receipt and response to steroids and other immunosuppressants. RESULTS: The median (interquartile range) age at diagnosis of INS was 5.1 (3.0-8.7) years and boys were 60.2% of the study population. Children with SSNS made up 85.9% (n = 207) of the study cohort. Among those aged 0-5 years, 92.6%were SSNS compared with 69.2% in those aged 11-17 years at the time of diagnosis. In addition, the proportion of children with SSNS increased from 73.8% between year 2010 and 2012 to 88.4% afterwards. Also, children with SSNS had lower serum creatinine (0.44 vs 0.70; p<0.001) and higher estimated glomerular filtration rate (101 vs 74.3 ml/min/1.73 m2; p = 0.008) at the time of diagnosis than those with steroid resistant nephrotic syndrome (SRNS). CONCLUSION: Among Black children in Lagos, the proportion with SSNS is comparable to proportions described in children of Asian and European descent. Furthermore, children with SSNS had lower serum creatinine and higher glomerular filtration rate than those with SRNS.
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Síndrome Nefrótico/tratamiento farmacológico , Esteroides/efectos adversos , Adolescente , África Occidental/epidemiología , Población Negra/genética , Niño , Preescolar , Estudios Transversales , Femenino , Tasa de Filtración Glomerular/efectos de los fármacos , Humanos , Lactante , Recién Nacido , Masculino , Hombres , Síndrome Nefrótico/epidemiología , Síndrome Nefrótico/genética , Síndrome Nefrótico/patología , Nigeria/epidemiología , Esteroides/uso terapéuticoRESUMEN
To understand the genetics of steroid-sensitive nephrotic syndrome (SSNS), we conducted a genome-wide association study in 987 childhood SSNS patients and 3,206 healthy controls with Japanese ancestry. Beyond known associations in the HLA-DR/DQ region, common variants in NPHS1-KIRREL2 (rs56117924, P=4.94E-20, odds ratio (OR) =1.90) and TNFSF15 (rs6478109, P=2.54E-8, OR=0.72) regions achieved genome-wide significance and were replicated in Korean, South Asian and African populations. Trans-ethnic meta-analyses including Japanese, Korean, South Asian, African, European, Hispanic and Maghrebian populations confirmed the significant associations of variants in NPHS1-KIRREL2 (Pmeta=6.71E-28, OR=1.88) and TNFSF15 (Pmeta=5.40E-11, OR=1.33) loci. Analysis of the NPHS1 risk alleles with glomerular NPHS1 mRNA expression from the same person revealed allele specific expression with significantly lower expression of the transcript derived from the risk haplotype (Wilcox test p=9.3E-4). Because rare pathogenic variants in NPHS1 cause congenital nephrotic syndrome of the Finnish type (CNSF), the present study provides further evidence that variation along the allele frequency spectrum in the same gene can cause or contribute to both a rare monogenic disease (CNSF) and a more complex, polygenic disease (SSNS).
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Síndrome Nefrótico , Alelos , Niño , Estudio de Asociación del Genoma Completo , Haplotipos , Humanos , Proteínas de la Membrana , Mutación , Síndrome Nefrótico/tratamiento farmacológico , Síndrome Nefrótico/genética , Esteroides , Miembro 15 de la Superfamilia de Ligandos de Factores de Necrosis Tumoral/genéticaRESUMEN
INTRODUCTION: Paediatric urology is one of the subspecialities of urology, and in most climes, it is practised by the urologists and paediatric surgeons, and likewise in the Lagos State University Teaching Hospital (LASUTH). The urologists see and manage most of these cases in LASUTH. There has been no formal training in this subspeciality. However, both the urologists and paediatric surgeons in LASUTH have acquired some measure of skill and experience over time by virtue of the relatively high volume of the cases seen. This study is aimed at reviewing the practice of paediatric urology in the urology division of LASUTH and to advocate for formal training in an otherwise rare but direly needed subspeciality. PATIENTS AND METHODS: The ports of entry of paediatric patients with urologic conditions were assessed retrospectively over a 5-year period (2014-2018). The paediatric age range based on the Lagos State Government policy for health care is from birth to 12 years old. The ports of entry included the urologic outpatient department, paediatric and the adult surgical emergency units and the paediatric wards. Patients referred to and managed by the paediatric surgery division were excluded from this study. RESULTS: The total paediatric urology cases seen and managed by the urologist in LASUTH within the period of review were 421. A total of 363 paediatric urology cases were seen during the period under review, making up 7.96% of the urology cases seen at the surgical outpatient department. The most common cases managed were hypospadias, posterior urethral valves and hydronephrosis. A variety of other cases include priapism, circumcision and post-circumcision injuries, urethral prolapse, testicular torsion, cystic renal dysplasia, disorder of sexual differentiation and several others. Three hundred and seven surgical procedures were done in the period of review on 272 (64.6%) patients. CONCLUSION: There is a need for subspecialisation in paediatric urology to harness more specialists with a specific focus, training and interest in children and their urological conditions.
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Pediatría/educación , Especialización , Urología/educación , Niño , Preescolar , Hospitales de Enseñanza , Humanos , Lactante , Recién Nacido , Masculino , Nigeria , Estudios Retrospectivos , UniversidadesRESUMEN
BACKGROUND: Childhood nephrotic syndrome (NS) follows a chronic course in most children. However, little is known about the psychosocial burden of NS on the caregivers despite evidence that caregiver burden or impairment in their well-being may alter the outcome of chronic childhood illnesses. OBJECTIVES: To determine the frequency and predictors of significant caregiver burden and psychological distress among caregivers of children with NS. DESIGN: A cross-sectional study. SETTING: Two pediatric nephrology clinics in Lagos, Nigeria. PATIENTS: We included primary caregivers of children with idiopathic NS for at least 6 months. MEASUREMENTS: The primary outcomes were psychological distress and significant caregiver burden among caregivers. METHODS: We interviewed caregivers using the 12-item General Health Questionnaire (GHQ-12) and the 6-item Zarit Burden Interview (ZBI-6). The GHQ-12 scores ≥ 3 and ZBI-6 scores ≥ 6 indicated psychological distress and significant caregiver burden, respectively. RESULTS: The caregivers were mostly mothers (77.9%) and married (92.4%), whereas the children (n = 172) were mainly male (65.1%). Most of the children (n = 152; 88.4%) had steroid-sensitive NS including 24 (14%) children with frequent relapses or steroid dependence and 20 (11.6%) with steroid-resistant NS. Of the 172 caregivers, 53 (30.8%) and 30 (17.4%) reported psychological distress and significant burden, respectively. Caregivers of children in relapse had adjusted an odds ratio (aOR) with 95% confidence interval (CI) of 2.45 (1.05-5.67) and 3.30 (1.22-8.92) of psychological distress and significant caregiver burden, respectively. Furthermore, caregivers of male children and those who needed help paying for health care had an aOR of 4.61 (1.34-15.68) and 3.06 (1.06-8.87) of significant caregiver burden, respectively. LIMITATIONS: The study was limited by its cross-sectional design and the use of generic rather than disease-specific instruments. CONCLUSION: One in every 6 caregivers of children with idiopathic NS reported significant caregiver burden, and it was associated with psychological distress. Our findings underscore the need for psychosocial support for caregivers of children with NS, especially those with identifiable vulnerability.
CONTEXTE: Le syndrome néphrotique (SN) de l'enfant suit dans la plupart des cas une évolution chronique. On en sait toutefois peu sur le fardeau psychosocial du SN pour les aidants naturels, malgré qu'il soit prouvé qu'un tel fardeau ou qu'une atteinte à leur bien-être peut altérer l'issue des maladies chroniques de l'enfance. OBJECTIF: Établir la fréquence et les facteurs prédictifs d'un important fardeau des aidants et de la détresse psychosociale chez les personnes qui prennent soin d'un enfant atteint du SN. TYPE D'ÉTUDE: Étude transversale. CADRE: Deux cliniques de néphrologie pédiatrique de Lagos au Nigéria. PARTICIPANTS: Ont été inclus les aidants naturels d'enfants atteints du SN idiopathique depuis au moins six mois. MESURES: Les principaux résultats étaient la détresse psychologique et un important fardeau chez les aidants naturels. MÉTHODOLOGIE: Nous avons interrogé des aidants naturels à l'aide d'un questionnaire en 12 points sur l'état de santé général (GHQ-12) et de l'Inventaire du fardeau en six points (Zarit Burden InterviewZBI-6). Un résultat égal ou supérieur à 3 au GHQ-12 indiquait la présence de détresse psychologique alors qu'un résultat égal ou supérieur à 6 au ZBI-6 signifiait un important fardeau de l'aidant. RÉSULTATS: Dans la majorité des cas (77,9 %), l'aidant naturel était la mère et celle-ci était mariée (92,4 %). Les enfants (n = 172) étaient majoritairement des garçons (65,1 %). La plupart des enfants (n = 152; 88,4 %) étaient atteints d'un SN stéroïdosensible, dont 24 (14 %) avaient des rechutes fréquentes ou une dépendance aux stéroïdes. Seuls 20 patients (11,6 %) étaient atteints d'un SN résistant aux stéroïdes. Des 172 aidants naturels inclus, 53 (30,8 %) ont rapporté vivre de la détresse psychologique et 30 (17,4 %) un important fardeau des aidants. Le rapport de cote corrigé (RCc) avec intervalle de confiance à 95 % (IC 95 %) des aidants d'enfants en rechute s'établissait à 2,45 (1,05-5,67) pour la détresse psychologique et à 3,30 (1,22-8,92) pour le fardeau des aidants. En outre, les soignants d'un garçon ou ceux qui avaient besoin d'aide pour payer les soins de santé présentaient respectivement un RCc de 4,61 (1,34-15,68) et de 3,06 (1,06-8,87) pour le fardeau des aidants. LIMITES: Les résultats sont limités par la nature transversale de l'étude et par l'emploi d'instruments de mesure générique plutôt que spécifiques à la maladie. CONCLUSION: Une personne sur six s'occupant d'un enfant atteint du SN idiopathique a rapporté un lourd fardeau des aidants associé à de la détresse psychologique. Nos résultats font ressortir le besoin de soutien psychologique pour les soignants d'enfants atteints du SN, particulièrement ceux dont la vulnérabilité est facilement repérable.
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BACKGROUND: The prevalence of acute kidney injury (AKI) in children with severe malaria in sub-Saharan African may have been underestimated. The study aimed to determine the prevalence of AKI in children with severe malaria and its association with adverse hospital outcomes. METHODS: At presentation, we measured complete blood count, serum bilirubin, and serum electrolytes, urea and creatinine in children with severe malaria. At 24 h after hospitalization, we repeated serum creatinine measurement. Urine passed in the first 24 h of hospitalization was also measured. We defined AKI and its severity using the Kidney Disease: Improving Global Outcome AKI guidelines. RESULTS: The study involved 244 children (53.3% males) with a median age of 3.5 (1.9-7.0) years. One hundred and forty-four (59%) children had AKI, and it reached maximum Stages 1, 2 and 3 in 56 (23%), 45 (18.4%) and 43 (17.6%) children, respectively. The majority (86.1%) with AKI had only elevated serum creatinine. Mortality increased with increasing severity of AKI on univariate analysis but weakened on multiple logistic regression. Mortality was also higher in those with both oliguria and elevated serum creatinine than in those with elevated serum creatinine only (50% vs. 4.8%, p < 0.001). Furthermore, children with AKI spent three days more in hospital than those without AKI (p < 0.001). CONCLUSIONS: Acute kidney injury complicates severe malaria in 6 out of every 10 children and is commonly identified using elevated serum creatinine. It is also associated with adverse hospital outcome.
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Lesión Renal Aguda/mortalidad , Tiempo de Internación/estadística & datos numéricos , Malaria Falciparum/complicaciones , Lesión Renal Aguda/parasitología , Niño , Preescolar , Creatinina/sangre , Femenino , Mortalidad Hospitalaria , Humanos , Lactante , Malaria/complicaciones , Malaria/diagnóstico , Malaria/mortalidad , Malaria Falciparum/diagnóstico , Malaria Falciparum/mortalidad , Masculino , Oliguria/etiología , Plasmodium falciparum/aislamiento & purificación , Prevalencia , Factores de Riesgo , Índice de Severidad de la EnfermedadRESUMEN
The prevalence of suboptimal Vitamin D levels is higher in patients with chronic kidney disease (CKD) than in the general population. Recent findings suggest that progression of CKD is linked to a suboptimal Vitamin D level. A high percentage of CKD patients have severe Vitamin D deficiency. These patients also have a low level of 25-hydroxy-vitamin D [25(OH)D] and consequently, a reduced ability to form active 1,25-dihydroxyvitamin D. Various factors underlie the low level of 25(OH)D, including a sedentary lifestyle, decreased intake of Vitamin D due to CKD-related dietary restrictions, and decreased synthesis of Vitamin D in skin due to uremia. All these factors may be particularly influential in patients with progressively worsening CKD, including those receiving chronic dialysis. The objective of our study is to determine the prevalence of Vitamin D deficiency in children with CKD stages three to five and those receiving chronic dialysis, to ascertain whether there is a relationship between Vitamin D deficiency and the stage of CKD, and to identify any clinical correlates associated with the Vitamin D status. A single-center, retrospective review was conducted of 46 children (younger than 18 years) with CKD stages 3-5D who attended the renal clinic of the Red Cross Children's Hospital between October 2013 and November 2014. In total, 73.9% of the study population had suboptimal Vitamin D levels (43.5% and 30.4% had Vitamin D deficiency and insufficiency, respectively). The prevalence of Vitamin D deficiency was significantly higher in older children (≥10 years of age) than in younger children (P = 0.000) but did not significantly differ between males and females (P = 0.693). In total, 12 of 15 black children (80%), 19 of 26 colored children (73.1%), two of four white children (50%), and one Asian child (100%) had suboptimal Vitamin D levels. Neither white nor Asian child had Vitamin D deficiency. In addition, 90% of patients undergoing chronic dialysis, 80% of whom were receiving peritoneal dialysis, had suboptimal Vitamin D levels. Age, weight, height, and the albumin concentration were significantly associated with the Vitamin D level. There was a positive linear relationship between the Vitamin D level and the serum albumin concentration (Spearman's rho correlation coefficient = 0.397, P = 0.007). In total, 87.5% of patients with nephrotic-range proteinuria had suboptimal Vitamin D levels, and 80% were Vitamin D deficient (P = 0.004). A higher percentage of Vitamin D deficiency/insufficiency cases was documented during the winter (24/34, 70.6%) than during the summer (10/34, 29.4%); however, this difference was not statistically significant (P = 0.685). Sub-optimal Vitamin D is high among children with moderate to severe CKD and significantly higher in those undergoing chronic dialysis. The emerging evidence of the role of Vitamin D in slowing progression of CKD highlights the need for monitoring and correction of Vitamin D levels in predialysis children.
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Insuficiencia Renal Crónica/epidemiología , Centros de Atención Terciaria , Deficiencia de Vitamina D/epidemiología , Vitamina D/análogos & derivados , Adolescente , Factores de Edad , Biomarcadores/sangre , Niño , Preescolar , Femenino , Humanos , Masculino , Prevalencia , Pronóstico , Grupos Raciales , Diálisis Renal , Insuficiencia Renal Crónica/sangre , Insuficiencia Renal Crónica/diagnóstico , Insuficiencia Renal Crónica/terapia , Estudios Retrospectivos , Factores de Riesgo , Índice de Severidad de la Enfermedad , Factores Sexuales , Sudáfrica/epidemiología , Vitamina D/sangre , Deficiencia de Vitamina D/sangre , Deficiencia de Vitamina D/diagnósticoRESUMEN
Background: Steroid-resistant nephrotic syndrome (SRNS) is a leading cause of end-stage kidney disease in children and young adults. Despite advances in genomic science that have led to the discovery of >50 monogenic causes of SRNS, there are no clear guidelines for genetic testing in clinical practice. Methods: Using high throughput sequencing, we evaluated 492 individuals from 181 families for mutations in 40 known SRNS genes. Causative mutations were defined as missense, truncating, and obligatory splice site variants with a minor allele frequency <1% in controls. Non-synonymous variants were considered pathogenic if determined to be deleterious by at least two in silico models. We further evaluated for differences in age at disease onset, family history of SRNS or chronic kidney disease, race, sex, renal biopsy findings, and extra-renal manifestations in subgroups with and without disease causing variants. Results: We identified causative variants in 40 of 181 families (22.1%) with SRNS. Variants in INF2, COL4A3, and WT1 were the most common, accounting for over half of all causative variants. Causative variants were identified in 34 of 86 families (39.5%) with familial disease and 6 of 95 individuals (6.3%) with sporadic disease (χ2 p < 0.00001). Family history was the only significant clinical predictor of genetic SRNS. Conclusion: We identified causative mutations in almost 40% of all families with hereditary SRNS and 6% of individuals with sporadic disease, making family history the single most important clinical predictors of monogenic SRNS. We recommend genetic testing in all patients with SRNS and a positive family history, but only selective testing in those with sporadic disease.
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Skin fold thickness (SFT) measurement is a reliable, cheap, simple, noninvasive method of body fat estimation at all ages including the neonatal period. Objective. To determine reference values of biceps, triceps, subscapular, and suprailiac skinfold thickness measurements in term Nigerian newborns. Method. A prospective cross-sectional study over a six-month period (Dec 2010-May 2011) was carried out on term and healthy neonates delivered between 37 and 41 weeks. The anthropometric measurements were taken within the first 48 hours of life including the skinfold thickness. The skinfold thickness measurements were taken at four sites, namely, triceps, biceps, subscapular, and suprailiac, using Harpenden skinfold calipers. The mean of two readings was recorded. Result. A total of one thousand one hundred and sixty-eight neonates were studied. The birth weight ranged between 2000 g and 5000 g with a mean birth weight of the neonates at 3259 ± 470 g. The mean birth weight of the males (3339 ± 0.45) was significantly higher than that of females (3200 ± 0.44) (p < 0.0001). Female neonates had higher mean values of triceps, subscapular, and suprailiac skinfold thickness (p < 0.001, resp.) while male neonates had higher mean value of biceps skinfold thickness (p = 0.008). Females also had higher mean values of the sum of skinfold thicknesses at all four sites and the sum at the two truncal sites at every stratified gestational age. Conclusions. The sex specific percentile chart developed for skinfold thickness measurements can be used to detect deviation from the reference population such that infants who are at risk of nutritional or health problems are identified early, and intervention is instituted promptly.
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Prune belly syndrome (PBS) is a rare congenital disorder affecting 2.5 to 3.8/100,000 live births worldwide. Our objective of this report is to describe clinical manifestation, laboratory, and radiological characteristics of PBS in our patients, to highlight the limitations to offering appropriate patient care due to parents demanding discharge against medical advice and the need to increase the awareness regarding this rare disease. We report three cases; all referred after birth with lax abdominal wall, congenital anomalies of kidney, and urinary tract. One of the patients had an absent right foot. They all had cryptorchidism, and in one, there was deranged renal function. The reported cases had both medical and radiological interventions to varying degrees. They all had an abdominal ultrasound which revealed varying degrees of hydronephrosis, hydroureters, and bladder changes. Voiding cystourethrogram showed vesicoureteric reflux in one of the reported cases. Urinary tract infections were appropriately treated with antibiotics based on sensitivity. PBS management in our setting remains a challenge because of strong cultural beliefs, and high rate of discharge against medical advice. Focus should be on parent education, early diagnosis, and multidisciplinary management approach.
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Hospitales Universitarios , Síndrome del Abdomen en Ciruela Pasa/terapia , Características Culturales , Conocimientos, Actitudes y Práctica en Salud , Humanos , Lactante , Recién Nacido , Masculino , Nigeria , Padres/educación , Padres/psicología , Alta del Paciente , Síndrome del Abdomen en Ciruela Pasa/diagnóstico , Síndrome del Abdomen en Ciruela Pasa/fisiopatología , Negativa del Paciente al TratamientoRESUMEN
BACKGROUND: Few data exist for the genetic variants underlying the risk for steroid-sensitive nephrotic syndrome (SSNS) in children. The objectives of this study were to evaluate HLA-DQA1 and APOL1 variants as risk factors for SSNS in African American children and use classic HLA antigen types and amino acid inference to refine the HLA-DQA1 association. STUDY DESIGN: Case-control study. SETTING & PARTICIPANTS: African American children with SSNS or steroid-resistant nephrotic syndrome (SRNS) were enrolled from Duke University and centers participating in the Midwest Pediatric Nephrology Consortium. FACTOR: Genetic variants in HLA-DQA1 (C34Y [rs1129740]; F41S [rs1071630]) and APOL1 high-risk alleles. OUTCOMES: SSNS and SRNS. MEASUREMENTS: Direct sequencing for the HLA-DQA1 and APOL1 variants in 115 African American children (65 with SSNS and 50 with SRNS). Imputation of classic HLA alleles and amino acids was done in 363 South Asian children. RESULTS: The 2 HLA-DQA1 variants were significantly associated with SSNS in African American children (C34Y: P=5.7 × 10-11; OR, 3.53; 95% CI, 2.33-5.42; F41S: P=1.2 × 10-13; OR, 4.08; 95% CI, 2.70-6.28), but not with SRNS (C34Y: P=0.6; F41S: P=0.2). APOL1 high-risk variants were not associated with SSNS (P=0.5) but showed significant associations with SRNS (P=1.04 × 10-7; OR, 4.17; 95% CI, 2.23-7.64). HLA-DQA1*0201, HLA-DQB1*0201, and HLA-DRB1*0701 were the classic HLA alleles with the most significant associations with SSNS risk. The most significantly associated amino acid positions were HLA-DQα1 56 and 76 (both P=2.8 × 10-7). Conditional analysis revealed that these variants most likely account for the observed association. LIMITATIONS: Modest sample size and limited statistical power to detect small to moderate effect sizes. Children studied may not be representative of all African American children in the United States. CONCLUSIONS: HLA-DQA1 is a risk locus for SSNS, but not SRNS, in African American children, consistent with its role in SSNS risk in children of European, Asian, and African ancestries. There is little evidence of a significant role for the APOL1 high-risk alleles in childhood SSNS in African American children. Refinement of the HLA-DQA1 association identified the critical classic HLA antigen types and amino acids of the HLA-DQ α1 molecule.
Asunto(s)
Apolipoproteína L1/genética , Negro o Afroamericano/genética , Predisposición Genética a la Enfermedad/epidemiología , Cadenas alfa de HLA-DQ/genética , Síndrome Nefrótico/epidemiología , Síndrome Nefrótico/genética , Esteroides/administración & dosificación , Distribución por Edad , Edad de Inicio , Alelos , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Variación Genética , Humanos , Incidencia , Lactante , Masculino , Síndrome Nefrótico/tratamiento farmacológico , Pronóstico , Medición de Riesgo , Distribución por Sexo , Estados Unidos/epidemiologíaRESUMEN
Cystatin C is an endogenous marker of renal function. Normal reference values have been documented in neonates outside Africa, but no study has been documented in African neonates. With reports that race may affect serum cystatin C values, this study was carried out to generate normal values in apparently healthy term neonates at birth and three days of life neonates in Nigeria. This was a hospital-based prospective study. A cohort of 120 apparently healthy term neonates were recruited at birth. Serum cystatin C was measured from the cord blood at birth and venous blood when they were three days old using enzyme-linked immunosorbent assay (ELISA) method. The mean serum cystatin C values for cord blood and 3rd day venous samples were 1.67 ± 0.52 mg/L and 1.62 ± 0.52 mg/L, respectively (P = 0.87). The cord blood and 3rd day serum cystatin C values for males were 1.67 ± 0.47 mg/L and 1.68 ± 0.51 mg/L, respectively (P = 0.77) and the values for females were 1.68 ± 0.56 mg/L and 1.58 ± 0.52 mg/L, respectively (P = 07.22). The serum cystatin C levels were similar among the different birth weight groups and gestational age (P >0.05). The cord blood and 3rd day serum cystatin C values were similar. Serum cystatin C values were independent of gender and birth weight of neonates. The values of serum cystatin C in Nigerian neonates were comparable to that reported for neonates in other regions of the world. It is recommended that ELISA technique may be reliably used to measure serum cystatin C levels in neonates.
Asunto(s)
Cistatina C/sangre , Pruebas de Función Renal/métodos , Riñón/fisiología , Tamizaje Neonatal/métodos , Biomarcadores/sangre , Ensayo de Inmunoadsorción Enzimática , Femenino , Sangre Fetal/metabolismo , Humanos , Recién Nacido , Masculino , Nigeria , Valor Predictivo de las Pruebas , Estudios Prospectivos , Valores de Referencia , Reproducibilidad de los ResultadosRESUMEN
BACKGROUND/OBJECTIVES: Neonatal sepsis is an important cause of morbidity and mortality in the pediatric age group in spite of several attempts at mitigating its effects. This article determines the prevalence of neonatal sepsis and the pathogens responsible for sepsis as well as risk factors and outcome at the Babcock University Teaching Hospital. METHODS: A retrospective analysis of laboratory records of consecutive babies delivered within and outside our hospital suspected of having sepsis over a 1-year period. RESULTS: The isolation rate was 34% from 100 neonates with the predominant pathogens being coagulase-negative staphylococci (CONS), Staphylococcus aureus, and Klebsiella pneumoniae. The risk factors for sepsis were age <3 days (P = 0.03) and prematurity (P < 0.001). The mortality rate was 12% with risk factors for mortality being birth weight <2500 g (P = 0.005), prematurity (P = 0.036), premature rupture of membranes (P = 0.007), and delivery outside a tertiary hospital (P = 0.007). Meropenem, ciprofloxacin, and amikacin showed the highest rates of in vitro efficacy. CONCLUSION: We highlight the prevalent pathogens in our local facility to be a combination of CONS, S. aureus, and K. pneumoniae with susceptibility patterns showing meropenem, ciprofloxacin, and amikacin to be our most effective antimicrobials in vitro.