Background
Cystic fibrosis (CF) care has been implemented in Turkey for a long time; however, there had been no patient registry. For this purpose, the Turkish National CF Registry was established. We present the first results of registry using data collected in 2017.
Methods
The data were collected using a data‐entry software system, which was accessed from the internet. Demographic and annually recorded data consisted of 15 and 79 variables, respectively.
Results
There were 1170 patients registered from 23 centers; the estimated coverage rate was 30%. The median age at diagnosis was 1.7 years (median current age: 7.3 years); 51 (4.6%) patients were aged over 18 years. Among 293 patients who were under 3 years of age, 240 patients (81.9%) were diagnosed through newborn screening. Meconium ileus was detected in 65 (5.5%) patients. Genotyping was performed in 978 (87.4%) patients and 246 (25.2%) patients' mutations were unidentified. The most common mutation was deltaF508 with an allelic frequency of 28%, followed by N1303K (4.9%). The median FEV1% predicted was 86. Chronic colonization with Pseudomonas aeruginosa was seen in 245 patients. The most common complication was pseudo‐Bartter syndrome in 120 patients. The median age of death was 13.5 years in a total of 15 patients.
Conclusions
Low coverage rate, lack of genotyping, unidentified mutations, and missing data of lung functions are some of our greatest challenges. Including data of all centers and reducing missing data will provide more accurate data and help to improve the CF care in Turkey in the future.
The VTQ and VTIQ values reveal high-grade histopathologic fibrosis and have high success rates when distinguishing high- from low-grade fibrosis. However, they have limited success rates when differentiating low-grade fibrosis from normal liver tissue.
Currently, tuberculosis remains a major public health problem worldwide. Peritoneal tuberculosis occurs in approximately 1% of all of tuberculosis cases and is rarely observed in children. Diagnosis and treatment delays caused by mimicking many other intra-abdominal diseases can lead to increases in morbidity and mortality. Here, we present a case of a four-year-old child with tuberculosis peritonitis who was diagnosed by laparoscopic biopsy and histopathological examination and recovered with antituberculosis therapy. Peritoneal tuberculosis should be considered in younger patients and adults with fever, abdominal pain and weight loss in endemic areas.
BackgroundPseudo‐Bartter syndrome (PBS) is a rare complication of cystic fibrosis (CF) and there are limited data in the literature about it. We aimed to compare clinical features and accompanying findings of patients with PBS in a large patient population.MethodsThe data were collected from the Cystic Fibrosis Registry of Turkey where 1170 CF patients were recorded in 2017. Clinical features, diagnostic test results, colonization status, complications, and genetic test results were compared in patients with and without PBS.ResultsTotally 1170 patients were recorded into the registry in 2017 and 120 (10%) of them had PBS. The mean age of diagnosis and current age of patients were significantly younger and newborn screening positivity was lower in patients with PBS (P < .001). There were no differences between the groups in terms of colonization status, mean z‐scores of weight, height, BMI, and mean FEV1 percentage. Types of genetic mutations did not differ between the two groups. Accompanying complications were more frequent in patients without PBS.ConclusionPBS was detected as the most common complication in the registry. It could be due to warm weather conditions of our country. It is usually seen in younger ages regardless of mutation phenotype and it could be a clue for early diagnosis of CF.
ObjectivesThe aim of this study was to determine the effect of cystic fibrosis (CF) on pancreas and liver elasticity in young children using point shear wave elastography and to determine the relationship with clinical findings.MethodsTwenty‐two patients with genetically proven CF, who were admitted to our pediatric gastroenterology clinic, and 22 healthy control participants were enrolled in the study. The shear wave velocity (SWV) of the liver and pancreas were measured with point shear wave elastography.ResultsThe 22 patients with CF included 45.5% girls with a mean age ± SD of 35 ± 35.8 months (range, 5–123 months). The 22 healthy control participants included 41.2% girls with a mean age of 58.9 ± 44.4 months (range, 2–159 months). The mean SWV of the pancreas in the patients with CF (1.06 ± 0.26 m/s) was significantly higher than that of the healthy control participants (0.85 ± 0.23 m/s; P = .01). The mean SWV of the liver in the patients with CF (1.46 ± 0.24 m/s) was significantly higher than that of the healthy control participants (1.12 ± 0.21 m/s; P = .001). The SWV of the pancreas and liver did not show any significant differences depending on ursodeoxycholic acid use, malnutrition status, and the presence of the F508 deletion mutation.ConclusionsThis study showed an increased SWV of the pancreas in children with CF, contrary to the literature. We also found an increased liver SWV even in the absence of CF‐related liver disease. Ultrasound elastography may be a useful method of evaluating early changes in the pancreas and liver before the obvious clinical, laboratory, and B‐mode ultrasound signs of CF‐related involvement.
Objective:
Unlike adults, gallbladder polyps (GPs) are rare in childhood. The aim of this study was to evaluate patients with a GP diagnosis.
Methods:
Patients who were diagnosed with GP via ultrasonography from October 2012 to October 2017 were retrospectively evaluated in terms of sociodemographic characteristics and laboratory findings.
Results:
The study included 19 patients diagnosed with GP and followed up in our department. The patients comprised 14 (73.6%) girls with a mean age of 13.9 ± 4.1 years and a mean follow-up period of 10.2 ± 5.4 months (range, 3–26 months). The most common presenting symptom of the patients (n = 15, 78.9%) for ultrasonography was abdominal pain without biliary symptoms. Location of the polyps was in the corpus in 55% of patients, and either in the fundus (20%) or the neck of the gallbladder (25%). The average diameter of the polyps was 4.5 ± 1.6 mm (range, 2–9 mm). Multiple polyps were observed in 3 patients. No significant change in the number or size of polyps was noted at the end of the follow-up periods. Cholecystectomy was applied to 1 patient who had >5 polyps with a rapid increase in size, and the pathology report was hamartomatous polyp. There was no remarkable change in the clinical or laboratory findings of other patients during the follow-up period.
Conclusion:
In this study, GPs could be seen in young children as young as 16 months of age and ultrasonography is sufficient for follow-up in stable and asymptomatic patients.
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