Klinische Padiatrie最新文献

Lysosomal storage disorders (LSD) are a group of inherited inborn metabolism errors that are characterized by a deficiency in the lysosomal enzyme. In patients with suspected lipid storage disorders, confirmation of the diagnosis relies predominantly on the measurement of specific enzymatic activities and molecular genetic studies. New approaches to the measurement of lysosphingolipids have been developed that may serve as a rapid first-tier screening tests for the evaluation of lysosomal storage disorders. The present study evaluates the results of lysosphingolipid screening tests in patients with suspected lysosomal storage diseases. Lysosphingolipid elevation was detected in five patients examined with suspected lysosomal storage disease, and a definitive diagnosis was reached based on genetic analysis. Our data support recent evidence of the primary role of LysoSLs in the diagnosis of sphingolipidosis, and suggest that these biomarkers may be used for diagnosis and treatment monitoring in the future.

Background: Renal dysplasia (RD) is a major cause of chronic kidney disease (CKD) in childhood. Herein, we present a single-center experience about distinctive features of different subtypes of dysplasia.

Methods: All children with RD admitted between January 2018 and June 2019 were included in this cross-sectional study. Patients were classified as having unilateral RD, bilateral RD, posterior urethral valves (PUV), and multicystic-dysplastic kidneys (MCDK).

Results: A total of 198 patients (108 unilateral RD, 31 bilateral RD, 16 PUV, and 43 MCDK) with a follow-up period of 80 (1.5-240) months were included. The overall consanguinity rate was 22%, whereas it was 56% in bilateral RD patients. Two-thirds had additional urogenital anomalies. Hypertension was detected in 16% of the patients, and 20% had median proteinuria of 16 (5.2-173) mg/m²/h, which was significantly higher in the PUV and bilateral RD groups. The overall rate of CKD was 23%, which was more frequent in bilateral RD and PUV groups. The median age at end-stage renal disease was 91.5 (0.5-208) months, including 12 renal transplant patients.

Conclusions: As different subtypes of RD have distinct clinical and prognostic features, the follow-up of RD patients should be individualized, and modifiable complications such as proteinuria and HT should be monitored closely.

Background: Antenatal hydronephrosis refers to the dilation of the renal pelvis and/or calyces in the developing fetus. The challenge lies in distinguishing between cases that warrant long-term follow-up or surgical intervention and those with transient hydronephrosis that require minimal invasive investigations.

Materials and methods: Our study aimed to assess and contrast the efficacy of the 2015 Congenital Anomalies of Kidney and Urinary Tract Guideline from the Turkish Society of Pediatric Nephrology with the Tepecik Antenatal Hydronephrosis Guideline, which was previously employed in our hospital. We conducted a comparative analysis of demographic data, outcome conditions, additional imaging requirements and quantities, radiation exposures, and rates of surgical interventions between two groups.

Results: Group 2 had a significantly higher detection rate of Vesicoureteral Reflux via voiding cystourethrogram at 38.5% compared to Group 1's 13.4% (p<0.01). The incidence of abnormal findings with dimercaptosuccinic acid was similar between Group 1 (28.5%) and Group 2 (26.4%) (p>0.01), but Group 2 had a higher rate of obstruction diagnosis at 68.8% versus Group 1's 29.4% (p<0.01). Group 1 had greater median radiation exposure (500 mrem vs. 200 mrem, p<0.01), and a higher proportion of patients underwent surgery (34.2% vs. 21.9%, p<0.01).

Conclusion: This study showed that the new guideline required fewer tests, was less invasive, and exposed patients to less radiation than the old guideline.

Objective: To evaluate the efficacy of different doses of gammaglobulin combined with aspirin in treating pediatric Kawasaki disease and its impact on C-reactive protein (CRP) and white blood cell (WBC) levels.

Methods: A prospective study was conducted with 150 children (3groups) diagnosed with Kawasaki disease. Group A received a higher dose of intravenous gammaglobulin (2.5 g/kg) combined with aspirin, Group B received a standard dose of intravenous gammaglobulin (2 g/kg) combined with aspirin, and Group C received a lower dose of intravenous gammaglobulin (1 g/kg) combined with aspirin. All groups received oral aspirin therapy (30 mg/kg/day) for a standard duration. The time to symptom improvement, treatment efficacy, laboratory parameters, and adverse reactions were monitored and analyzed.

Results: Group B showed a shorter time to symptom relief compared to Groups A and C, particularly in fever reduction, mucosal congestion, cervical lymph node enlargement, and limb symptoms. The total effective rate was higher in Group B compared to Groups A and C. Group B showed improvements in WBC, CRP, ESR, and PLT levels.

Conclusion: Standard-dose intravenous gammaglobulin combined with aspirin was more effective in treating pediatric Kawasaki disease compared to higher and lower doses. The treatment regimen in Group B resulted in shorter time to symptom relief, higher total effective rate, improved biochemical markers. Incidence of adverse reactions was similar among the three groups, demonstrating the safety of standard dosage.

According to the 2020 CDC criteria, multisystem inflammatory syndrome in children (MIS-C) due to Coronavirus disease-19 (COVID-19) is diagnosed when all of the following criteria are met: fever for+≥+24 hours, laboratory evidence of inflammation, multisystem (+≥+2) organ involvement, evidence of SARS-CoV-2 infection or exposure, and no alternative plausible diagnoses (CDC, 2020). Alternative diagnosis need to be excluded before coming upon an MIS-C diagnosis since there are plenty of infectious diseases that may mimic MIS-C (Dworsky et al., Pediatr Infect Dis J 2021; 40; e159-e161; Yalçinkaya et al., Pediatr Infect Dis J 2021; 40; e524-e525; Kaneta et al., Pediatr Infect Dis J 2023; 42; 590-593; Stanzelova et al., Pediatr Infect Dis J 2023; 42; e201-e203; Kolsi et al., Arch Pediatr 2023; 30; 521-523). Herein, we present a 6-year-old girl who was preliminarily diagnosed with MIS-C and received intravenous immunoglobulin (IVIG) treatment before referral to our center. She was diagnosed with acute pneumococcal meningitis due to serotype 19 F and ultimately suffered from sensorineural hearing loss (SNHL) as a sequela. We present this case to remind physicians that MIS-C should not be diagnosed unless other infectious causes are excluded.

Introduction: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome (PFAPA) is the most common periodic fever condition in children. There is no consensus on treatment to prevent attacks and reduce their frequency. In this study, we aimed to evaluate the effectiveness of colchicine treatment in PFAPA syndrome. In addition, we described the demographic and clinical features of PFAPA patients.

Materials and methods: We retrospectively analyzed 58 PFAPA patients who were started on colchicine treatment between January 2017 and January 2022. Demographic data, clinical features, laboratory tests, genetic analysis of MEditerranean FeVer (MEFV) mutations, and autoinflammatory disease activity index (AIDAI) scores of all patients were evaluated. In addition, patients were divided into two groups according to MEFV variants and compared.

Results: Attack frequency, duration, and AIDAI scores decreased in all patients after colchicine treatment. Duration of follow-up was 13.53±6.65 months. The median±IQR age at diagnosis was 3.2 (2-5) years. Thirty three (56.9%) patients had heterozygous mutations of MEFV. The most common MEFV variants were M694V (63.6%). There was no significant difference between the two groups in terms of colchicine responses.

Conclusion: Colchicine treatment is effective and safe in patients with PFAPA who have frequent attacks. No association was established between the presence of heterozygous mutations of MEFV and colchicine response.

Acute postinfectious glomerulonephritis (APIGN) is one of the most common causes of acute glomerulonephritis in children. It may lead to inflammation and proliferation of glomerular tissue through immunologic mechanisms (Balasubramanian R, Paediatr Int Child Health 2017;37:240-247).