RESUMO
CYP24A1 is an enzyme that inactivates vitamin D and encodes vitamin D 24-hydroxylase. Mutations in this enzyme have been linked with idiopathic infantile hypercalcemia, nephrolithiasis, and nephrocalcinosis. Genetic testing for this mutation should be considered in the presence of calciuria, elevated serum calcium, elevated 1,25- dihydroxyvitamin D, and suppressed parathyroid hormone. We present a previously healthy eight-month-old male infant with macrohematuria, hypercalciuria (6 mg/kg/24 h), albuminuria (54 mg/24 h) and left-sided nephrolithiasis found on urinary tract ultrasound. The values of alpha 1 microglobulin, parathyroid hormone, vitamin D, serum electrolytes, amino acids, glycols, oxalates and citrates in urine, as well as coagulation tests were normal. Genetic testing excluded suspected Dent's disease but confirmed heterozygous missense variant CYP24A1 c.469C>T, p.(Arg157Trp) classified as polymorphism. He was treated with hydrochlorothiazide and potassium citrate. Children presenting with hypercalcemia, hypercalciuria and nephrolithiasis should be tested because of the importance of recognition, genetic diagnosis and proper treatment of CYP24A1 mutations that can present with a wide range of phenotypic presentations, from asymptomatic to chronic renal disease.
Assuntos
Hipercalcemia , Nefrocalcinose , Nefrolitíase , Criança , Humanos , Hipercalcemia/complicações , Hipercalcemia/diagnóstico , Hipercalcemia/genética , Hipercalciúria/complicações , Hipercalciúria/diagnóstico , Hipercalciúria/genética , Lactente , Masculino , Nefrocalcinose/diagnóstico , Nefrocalcinose/genética , Nefrolitíase/complicações , Nefrolitíase/genética , Vitamina D3 24-Hidroxilase/genéticaRESUMO
We present a case of transient form of type 1 pseudohypoaldosteronism (S-PHA) in a 1.5-month-old male infant who presented with lethargy, failure to thrive, severe hyponatremia (Na=118 mmol/L), hypochloremia (Cl=93 mmol/L) and fever due to urinary tract infection. Potassium levels were normal. Markedly elevated serum aldosterone level and elevated serum renin confirmed the diagnosis of pseudohypoaldosteronism. Renal ultrasound showed grade III hydronephrosis on the left kidney while contrast-enhanced voiding urosonography excluded the existence of vesicoureteral reflux, which raised suspicion of obstructive uropathy at the level of vesicoureteral junction. Serum sodium normalized after several days of intravenous fluids and antibiotic therapy, after which oral supplementation of sodium was introduced. The levels of 17-hydroxyprogesterone, adrenocorticotropic hormone, cortisol and thyroid-stimulating hormone were normal. Functional magnetic resonance urography conducted at the age of 3 months confirmed the diagnosis of primary congenital obstructive megaureter and the infant was referred to a pediatric surgeon. Although a rare occurrence, S-PHA can be a potentially life-threatening condition in infants if not recognized and treated appropriately. Therefore, serum concentrations of electrolytes should be obtained in every child diagnosed with obstructive anomaly of the urinary tract and/or acute cystopyelonephritis. On the other hand, every child diagnosed with S-PHA should be evaluated for obstructive anomaly of the urinary tract.
Assuntos
Hidronefrose , Pseudo-Hipoaldosteronismo , Infecções Urinárias , Criança , Humanos , Lactente , Masculino , Pseudo-Hipoaldosteronismo/complicações , Pseudo-Hipoaldosteronismo/diagnóstico , Infecções Urinárias/complicações , Infecções Urinárias/diagnóstico , Rim , Hidronefrose/etiologia , Hidronefrose/complicações , SódioRESUMO
We report a rare case of nephritic syndrome underlying dense deposit disease (DDD) with alternative complement pathway dysfunction explained with both C3 nephritic factor (C3NeF) antibodies and DDD associated polymorphism of factor H. An 8-year-old boy presented with macroscopic hematuria, hypertension and periorbital edema followed by persistently low C3 during the 8-week follow-up. Positive C3 staining on immunofluorescence microscopy, supported by dense deposits within the glomerular basement membrane on electron microscopy, confirmed the diagnosis of DDD. Preliminary tests for complement activation showed decreased classic pathway and deficient alternative complement pathway, as well as slightly positive C3NeF, supporting the diagnosis of DDD. Genetic analysis revealed a polymorphism of the complement factor H gene with an increased risk of developing DDD. Supportive therapy led to satisfactory recovery of renal function and normalization of C3. Given the poor prognosis of the disease, proper approach to such specific glomerulopathy is important to avoid or at least slow down progression to end-stage renal disease.
Assuntos
Glomerulonefrite Membranoproliferativa , Falência Renal Crônica , Criança , Fator Nefrítico do Complemento 3 , Fator H do Complemento , Via Alternativa do Complemento/genética , Glomerulonefrite Membranoproliferativa/diagnóstico , Glomerulonefrite Membranoproliferativa/genética , Glomerulonefrite Membranoproliferativa/terapia , Humanos , MasculinoRESUMO
Vesicoureteral reflux (VUR) is one of the most common anomalies of the urinary system in children. Contrast-enhanced voiding urosonography (ceVUS) is one of the best methods in VUR diagnosis. This study compared characteristics associated with VUR specific images and categorized patients according to a particular VUR grade. The study included 183 children. VUR was detected in 38.9% of patients, mean age 1.7±1.1 years. Grade II VUR was most common (60.3%), followed by grade III (29.4%). Study results showed that VUR occurred irrespective of age, gender, previous ultrasound findings, causative agent, and severity of urinary tract infection (UTI). VUR was more common in children with recurrent UTI. In the group of children with the first UTI not caused by Escherichia coli or with recurrent UTI, boys more commonly suffered from severe VUR (grade IV-V; 66.7%), while girls suffered from moderate VUR (grade II-III; 100%). In this study, the incidence of VUR in prenatally diagnosed hydronephrosis was 28.6%. It is necessary to develop an algorithm for the treatment of children after UTI in Croatia, which should include ceVUS. All children with possible VUR should be referred to a specialized center where it is possible to perform ceVUS.
Assuntos
Infecções Urinárias , Refluxo Vesicoureteral , Criança , Pré-Escolar , Croácia , Feminino , Humanos , Incidência , Lactente , Masculino , Infecções Urinárias/diagnóstico por imagem , Infecções Urinárias/epidemiologia , Refluxo Vesicoureteral/diagnóstico por imagem , Refluxo Vesicoureteral/epidemiologiaRESUMO
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disorder, estimated to affect 1 in 1000 people. It displays a high level of variability in terms of onset and severity among affected individuals within the same family. In this case study, three sisters (4, 8, and 10 years of age) were suspected of having ADPKD due to their positive family history. While the two younger sisters aged 8 and 4 showed no disease complications and had normal kidney function, the oldest sister was found to have no dipping status on ambulatory blood pressure measurement (ABPM). Two of the sisters were discovered to have a PKD1 mutation, while the third sister aged 8 was heterozygous for TTC21B c.1593_1595del, p. (Leu532del), which is a variant of uncertain significance (VUS). Environmental factors and genetic modifying factors are believed to contribute to the phenotypic variability observed in ADPKD. Identifying and understanding potential genetic and environmental modifiers of ADPKD could pave the way to targeted treatments for childhood ADPKD.
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Background: Diabetic kidney disease (DKD) is the main cause of end-stage renal disease in patients with diabetes mellitus type I (DM-T1). Microalbuminuria and estimated glomerular filtration rate (eGFR) are standard predictors of DKD. However, these predictors have serious weaknesses. Our study aimed to analyze cystatin C, renal resistance index, and urinary kidney injury molecule-1 (KIM-1) as predictors of DKD. Methods: We conducted a cross-sectional study in 2019 on a consecutive sample of children and adolescents (10-18 years) diagnosed with DM-T1. The outcome was a risk for DKD estimated using standard predictors: age, urinary albumin, eGFR, serum creatinine, DM-T1 duration, HbA1c, blood pressure, and body mass index (BMI). We conducted the analysis using structural equation modeling. Results: We enrolled 75 children, 36 girls and 39 boys with the median interquartile range (IQR) age of 14 (11-16) years and a median (IQR) duration of DM-T1 of 6 (4-9) years. The three focal predictors (cystatin C, resistance index, and urinary KIM-1) were significantly associated with the estimated risk for DKD. Raw path coefficients for cystatin C were 3.16 [95% CI 0.78; 5.53; p = 0.009, false discovery rate (FDR) < 5%], for renal resistance index were -8.14 (95% CI -15.36; -0.92; p = 0.027; FDR < 5%), and for urinary KIM-1 were 0.47 (95% CI 0.02; 0.93; p = 0.040; FDR < 5%). Conclusion: Cystatin C, renal resistance index, and KIM-1 may be associated with the risk for DKD in children and adolescents diagnosed with DM-T1. We encourage further prospective cohort studies to test our results.
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Enthesitis related arthritis (ERA) is a specific subtype of juvenile idiopathic arthritis (JIA), often regarded as an undifferentiated form of juvenile spondyloarthritis (jSpA). While gut is increasingly recognized as origin and/or target of inflammation in adult onset spondyloarthritis (SpA), the incidence of gut involvement in ERA patients is largely unknown. The aim of this study was to measure the concentration of fecal calprotectin (fCAL), a surrogate marker of gut inflammation, in patients with different subtypes of JIA, as well as to correlate the results with various demographic, clinical, laboratory, imaging, and treatment characteristics. The cross-sectional exploratory study involving 71 patients with ERA, other forms of JIA and children complaining musculoskeletal symptoms was therefore conducted. Along with fCAL assessment, a detailed clinical and laboratory examination was performed, including the calculation of a composite disease activity scores. Moreover, MRI of the sacroiliac joints was performed in all ERA and other patients complaining of low back pain. The median concentration of fCAL was highest in ERA patients (33.2 mg/kg, p = 0.02), with a significant difference between those with inactive and active disease (20.0 vs. 57.4, p = 0.01), as well as those with and without MRI signs of sacroiliitis (22.6 vs. 54.3, p = 0.04). The fCAL did not differ depending on the NSAID use (23 vs. 20, p = 0.18), although weak correlation was observed with the treatment duration (r = 0.25, p = 0.03). In conclusion, our findings indicate that a parallel inflammation in musculoskeletal system and gut can occur not just in adults with SpA, but in children with ERA as well.
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Objectives The objectives of this study were to analyze ambulatory blood pressure (ABP) data in office normotensive obese children, to determine the prevalence and characteristics of masked hypertension (MH) and to investigate the impact of parental hypertension (PH) on ABP. Methods Seventy-nine obese and 35 normal weight children were enrolled. Each weight group was further divided in accordance with the presence of PH. ABP was recorded in an outpatient setting. Results Obese children had higher systolic ABP (p<0.05) and heart rate (p<0.001) compared with normal weight children. In obese children with PH, only nighttime systolic ABP (p=0.01) was higher compared with obese without PH, whereas normal weight children with PH had higher 24 h and daytime systolic and diastolic BP (all p<0.05) and nighttime DBP (p<0.001) compared with those without PH. PH but not obesity was associated with nondipping phenomenon. Prevalence of MH in the whole group was 23.6% being significantly higher in obese than in nonobese subjects (31.6 vs. 5.7%; p=0.0026) as well as in obese subjects with PH compared with obese subjects without PH (48.7 vs. 15%; χ2=10.37; p=0.001). MH was diagnosed more frequently in obese with high-normal office BP compared with obese with normal office BP, although it did not reach statistical significance (50 vs. 26.2%; χ2=3.631; p=0.056). In the normal weight group, neither PH nor office BP category had an impact on the prevalence of MH. Conclusions Office normotensive obese children had higher ABP values. MH was associated with obesity, PH and high-normal BP.
Assuntos
Biomarcadores/análise , Monitorização Ambulatorial da Pressão Arterial/métodos , Predisposição Genética para Doença , Hipertensão/epidemiologia , Obesidade/fisiopatologia , Adolescente , Índice de Massa Corporal , Peso Corporal , Estudos de Casos e Controles , Criança , Croácia/epidemiologia , Estudos Transversais , Feminino , Seguimentos , Frequência Cardíaca , Humanos , Hipertensão/patologia , Masculino , Pais , Prevalência , PrognósticoRESUMO
Adrenal hemorrhage is a rare clinical entity in the neonatal period, with an incidence of 1.7-2.1/1000 births. It is more often diagnosed on the right side, whilst bilateral hemorrhage occurs in 10%-15% of cases. Clinical presentation shows a wide range of symptoms, from the signs of adrenal insufficiency to asymptomatic course of illness with incidental finding of changes on testing. Neonatal jaundice due to hemolysis of hemorrhagic content often is an accompanying sign. We present a male neonate born at term, with early neonatal jaundice of unknown cause and without evi-dence of perinatal infection. Ultrasound of the urinary tract revealed hypoechoic formations in the upper poles of both kidneys, confirmed by magnetic resonance imaging of the abdomen. Clinical and laboratory test results showed no signs of adrenal insufficiency. There was no confirmation of em-bryonic tumor or neuroblastoma. Ultrasound of the urinary tract as an available and noninvasive test has its place in the treatment of early neonatal jaundice of unknown cause. Additional invasive treat-ment and unnecessary laparotomy can be avoided with ultrasound monitoring of the formation re-gression.