المؤلفون: A. I. Safina, T. V. Mikhailova, I. I. Zakirov, I. M. Suleimanova, А. И. Сафина, Т. В. Михайлова, И. И. Закиров, И. М. Сулейманова

المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 68, № 5 (2023); 85-88 ; Российский вестник перинатологии и педиатрии; Том 68, № 5 (2023); 85-88 ; 2500-2228 ; 1027-4065

مصطلحات موضوعية: клинический случай, acute kidney injury, cystic fibrosis, pseudo-Bartter syndrome, clinical case, острое повреждение почек, муковисцидоз, синдром псевдо-Барттера

الوصف: Early diagnosis of the cystic fibrosis remains an urgent problem, despite ongoing nationwide neonatal screening. The uniqueness of the presented clinical case lies in the atypical onset of cystic fibrosis in a young child with clinical manifestations of acute kidney injury. The suddenly developed severe general condition in a child was due to manifestations of acute renal injury of the third stage (severe lethargy, anuria for 14 hours, an increase in blood creatinine to 121 µmol/L, a decrease in glomerular filtration rate to 17.4 mL/min), decompensated metabolic alkalosis with hypokalemia, hyponatremia, hypocalcemia (pH 7.6, K+ 2.6 mmol/L, Na+ 118 mmol/L, Ca2+ 0.96 mmol/L, HCO3 – 35.5 mmol/L). The observed disturbances in acid-base status and electrolyte metabolism were manifestations of the pseudo-Bartter syndrome. For the prevention of acute kidney injury in a patient with cystic fibrosis, timely electrolyte and fluid management is important to prevent the development of pseudo-Bartter’s syndrome, exsicosis and hypovolemia. ; Ранняя диагностика муковисцидоза остается актуальной проблемой, несмотря на проводимый всеобщий неонатальный скрининг. Уникальность представленного клинического случая заключается в нетипичном дебюте муковисцидоза у ребенка раннего возраста с проявлений острого повреждения почек. Внезапно развившееся тяжелое общее состояние у ребенка было обусловлено острым повреждением почек III стадии по тяжести (выраженная вялость, анурия на протяжении 14 ч, повышение концентрации креатинина в крови до 121 мкмоль/л, снижение скорости клубочковой фильтрации до 17,4 мл/мин), декомпенсированным метаболическим алкалозом с гипокалиемией, гипонатриемией, гипокальциемией (pH 7,6, К+ 2,6 ммоль/л, Na+ 118 ммоль/л, Са2+ 0,96 ммоль/л, HCO3 – 35,5 ммоль/л). Наблюдаемые нарушения кислотно-основного состояния и электролитного обмена были обусловлены развитием у ребенка синдрома псевдо-Барттера. Для профилактики острого повреждения почек у пациента с муковисцидозом важно своевременное возмещение электролитов и воды в ...

وصف الملف: application/pdf

العلاقة: https://www.ped-perinatology.ru/jour/article/view/1880/1419Test; De Boeck K. Cystic fibrosis in the year 2020: disease with a new face. Acta Paediatr 2020; 109(5): 893–899. DOI:10.1111/apa.15155; Андрусева А.М., Камышова Е.С., Захарова Е.В. Острое почечное повреждение. Клинические практические рекомендации KDIGO (основные положения). Нефрология и диализ 2012; 14(2): 86–94.; Fremont O.T., Chan J.C.M. Understanding Bartter syndrome and Gitelman syndrome. World J Pediatr 2012; 8(1): 25–30. DOI:10.1007/s12519–012–0333–9; Yalçin E., Kiper N., Doğru D., Ozçelik U., Aslan A.T. Clinical features and treatment approaches in cystic fibrosis with pseudo-Bartter syndrome. Ann Trop Paediatr 2005; 25: 119–124. DOI:10.1179/146532805X45719; Peremans L., Declercq D., Vande Velde S., De Bruyne R., Van Winckel M., Vande Walle J. et al. Acid-base disturbances in dehydrated patients with cystic fibrosis: four case reports with review of literature. Acta Gastroenterol Belg 2020; 83(2): 315–318; Mantoo M.R., Kabra M., Kabra S.K. Cystic Fibrosis Presenting as Pseudo-Bartter Syndrome: An Important Diagnosis that is Missed! Indian J Pediatr 2020; 87(9): 726–732. DOI:10.1007/s12098–020–03342–8; Ашерова И.К., Капранов Н.И. Электролитные нарушения у больных муковисцидозом. Вестник новых медицинских технологий 2012; ХIХ(2): 96–98.; Kapnadak S.G., Dimango E., Hadjiliadis D. Cystic Fibrosis Foundation consensus guidelines for the care of individuals with advanced cystic fibrosis lung disease. J Cyst Fibros 2020; 19(3): 344–354. DOI:10.1016/j.jcf.2020.02.015; Баранов А.А., Намазова-Баранова Л.С., Куцев С.И., Авдеев С.Н., Полевиченко Е.В., Белевский А.С. и др. Кистозный фиброз (Муковисцидоз). Клинические рекомендации Союза педиатров России. 2021. https://cr.minzdrav.gov.ru/recomend/372_2Test. / Ссылка активна на 20.07.2023.; https://www.ped-perinatology.ru/jour/article/view/1880Test

الإتاحة: https://doi.org/10.21508/1027-4065-2023-68-5-85-88Test
https://doi.org/10.1111/apa.15155Test
https://doi.org/10.1007/s12519Test–012–0333–9
https://doi.org/10.1179/146532805X45719Test
https://doi.org/10.1007/s12098Test–020–03342–8
https://doi.org/10.1016/j.jcf.2020.02.015Test
https://www.ped-perinatology.ru/jour/article/view/1880Test

المؤلفون: Vergine, Gianluca, Fressola, Giulia, Ambroni, Maura, Gessaroli, Monica, Bigucci, Barbara, Mazzocco, Martina, Conte, Maria Luisa

المصدر: G Ital Nefrol ; ISSN:1724-5990 ; Volume:41 ; Issue:3

مصطلحات موضوعية: cystic fibrosis, hyponatremia, metabolic alkalosis, pediatrics, pseudo-Bartter syndrome

الوصف: Cystic fibrosis is a multisystem disease with extremely variable onset, symptoms and course. One of the onset modality but also a complication of the disease is the pseudo-Bartter syndrome, characterized by hyponatremia, hypochloremic dehydration and metabolic alkalosis in absence of any renal disease. This syndrome occurs more frequently in the first year of life and has a peak in the summer. In this article, we describe two cases of cystic fibrosis associated with pseudo-Bartter syndrome in childhood. Excluding every possible cause of metabolic alkalosis associated with hyponatremia was crucial for our diagnostic pathway, and the experience gained with the first case helped a lot with the second one.

العلاقة: https://pubmed.ncbi.nlm.nih.gov/38943326Test

الإتاحة: https://pubmed.ncbi.nlm.nih.gov/38943326Test

المؤلفون: Evgeniya Babatseva, Ilias Chatziioannidis, Alexia ‐ Angeliki Tagaraki, Despoina Tramma, Kalliopi Dampala, Efthymia Chatzitoliou, Efthymia Papacharalambous, Georgios Mitsiakos, Christos Tsakalidis, Paraskevi Karagianni, Maria Lithoxopoulou, Kleanthis Anastasiadis, Vasiliki Soubasi

المصدر: Clinical Case Reports, Vol 8, Iss 12, Pp 2541-2544 (2020)

مصطلحات موضوعية: eating disorders, hypokalemia, intrauterine growth restriction, metabolic alkalosis, pseudo‐Bartter syndrome, Medicine, Medicine (General), R5-920

الوصف: Abstract Maternal diet before and during pregnancy plays an important role for the developing fetus. Any eating disorder in this period can cause transient or/and permanent negative effects on the mother and her offspring.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2050-0904Test

الوصول الحر: https://doaj.org/article/e6d1d17cdd644f95a3b0f62c1594ce7eTest

المؤلفون: Bethy Camargo-Vargas, María Varela, Laura Wilches, María Paula martinez Quiñones, Ranniery Acuña-Cordero

المصدر: Revista Alergia México, Vol 68, Iss 4 (2021)

مصطلحات موضوعية: fpies, pseudo bartter syndrome, food allergy, cystic fibrosis, Immunologic diseases. Allergy, RC581-607

الوصف: Introducción: La enterocolitis inducida por proteínas alimentarias es una alergia alimentaria no mediada por inmunoglobulina E, manifestada en forma aguda por vómito recurrente, deshidratación y choque. Es una patología inusual que requiere alto índice de sospecha. El pseudo-Bartter (alcalosis metabólica, hipocaliemia e hipocloremia en ausencia de tubulopatía) es una complicación infrecuente de fibrosis quística. Reporte de caso: Niño de cinco meses de edad con vómito recurrente, deshidratación y choque, alimentado con lactancia materna, pero que consumió fórmula tres horas previas al inicio de síntomas. Los exámenes de laboratorio confirmaron hiponatremia, alcalosis metabólica hipoclorémica e hipocalemia sin tubulopatía; dos iontoforesis mostraron resultados alterados; la elastasa en materia fecal se encontró disminuida y la secuenciación genética confirmó el diagnóstico de fibrosis quística. La prueba de provocación confirmó enterocolitis inducida por proteínas alimentarias. Conclusión: El vómito recurrente y la deshidratación tras la ingesta de fórmula láctea deben hacer sospechar un enterocolitis inducida por proteínas alimentarias. Ante el hallazgo de pseudo-Bartter se debe descartar fibrosis quística.

وصف الملف: electronic resource

العلاقة: https://revistaalergia.mx/ojs/index.php/ram/article/view/974Test; https://doaj.org/toc/0002-5151Test; https://doaj.org/toc/2448-9190Test

الوصول الحر: https://doaj.org/article/43a22d0c8a4e4bdc80c7b2364589df90Test

المؤلفون: Mojgan Faraji‐Goodarzi

المصدر: Clinical Case Reports, Vol 7, Iss 6, Pp 1123-1126 (2019)

مصطلحات موضوعية: cystic fibrosis, metabolic alkalosis, Pseudo‐Bartter syndrome, Medicine, Medicine (General), R5-920

الوصف: Abstract Cystic fibrosis (CF) is an autosomal recessive genetic disorder. We report a case of a boy aged 4.5 years with cystic fibrosis, presenting under‐weightness, hypocalcemia, metabolic alkalosis, hypokalemia, and hyponatremia. Sweat analysis of the patients concluded pseudo‐Bartter syndrome, which was successfully treated using antibiotics, physiotherapy, fluids, vitamin supplements, and pancreatic enzyme therapy.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2050-0904Test

الوصول الحر: https://doaj.org/article/5c64ed53c9f24b36b1455f659e1fe98cTest

المؤلفون: Maryam Najafi, Dor Mohammad Kordi-Tamandani, Farkhondeh Behjati, Simin Sadeghi-Bojd, Zeineb Bakey, Ehsan Ghayoor Karimiani, Isabel Schüle, Anoush Azarfar, Miriam Schmidts

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)

مصطلحات موضوعية: Bartter syndrome, Whole exome sequencing, Pseudo-Bartter-syndrome, Medicine

الوصف: Abstract Background Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis. Mutations in several genes encoding for ion channels localizing to the renal tubules including SLC12A1, KCNJ1, BSND, CLCNKA, CLCNKB, MAGED2 and CASR have been identified as underlying molecular cause. No genetically defined cases have been described in the Iranian population to date. Like for other rare genetic disorders, implementation of Next Generation Sequencing (NGS) technologies has greatly facilitated genetic diagnostics and counseling over the last years. In this study, we describe the clinical, biochemical and genetic characteristics of patients from 15 Iranian families with a clinical diagnosis of Bartter Syndrome. Results Age range of patients included in this study was 3 months to 6 years and all patients showed hypokalemic metabolic alkalosis. 3 patients additionally displayed hypercalciuria, with evidence of nephrocalcinosis in one case. Screening by Whole Exome Sequencing (WES) and long range PCR revealed that 12/17 patients (70%) had a deletion of the entire CLCNKB gene that was previously identified as the most common cause of Bartter Syndrome in other populations. 4/17 individuals (approximately 25% of cases) were found to suffer in fact from pseudo-Bartter syndrome resulting from congenital chloride diarrhea due to a novel homozygous mutation in the SLC26A3 gene, Pendred syndrome due to a known homozygous mutation in SLC26A4, Cystic Fibrosis (CF) due to a novel mutation in CFTR and apparent mineralocorticoid excess syndrome due to a novel homozygous loss of function mutation in HSD11B2 gene. 1 case (5%) remained unsolved. Conclusions Our findings demonstrate deletion of CLCNKB is the most common cause of Bartter syndrome in Iranian patients and we show that age of onset of clinical symptoms as well as clinical features amongst those patients are variable. Further, using WES we were able to prove that nearly 1/4 patients in fact suffered from Pseudo-Bartter Syndrome, reversing the initial clinical diagnosis with important impact on the subsequent treatment and clinical follow up pathway. Finally, we propose an algorithm for clinical differential diagnosis of Bartter Syndrome.

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-018-0981-5Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/2f47bf6ab337423e85de68cca12ea5c1Test

المؤلفون: Senol, Handan Duman, Ozaslan, Mehmet Mustafa, Barlık, Meral, Coksuer, Fevziye, Dindar, Bahar, Demir, Esen, Gülen, Figen

مصطلحات موضوعية: Cystic fibrosis, Pseudo-Bartter syndrome, complications

الوصف: Objective: Pseudo-Bartter syndrome (PBS) is a complication of cystic fibrosis (CF) accompanied by electrolyte disorders. We aimed to compare the clinical features of patients diagnosed with CF with or without PBS in our clinic.Method: One hundred twenty-eight patients with the diagnosis CF data was recorded. Clinical features, diagnostic test results, colonization status, complications and genetic test results were compared in patients with and without PBS.Results: Totally 128 patients who were regularly followed diagnosis CF January 2017 and May 2022 and 18 of them (14%) developed PBS. Median age of CF diagnosis was significantly lower in patients with PBS (p0.003). There was a significant difference between the two groups in terms of colonization. In the group with PBS, the chronic respiratory tract colonization was detected more. There were no significant differences for age, gender, weight, height, sweat test. The most common genetic mutation was c1521_1523delCTT (p. F508Del).Conclusion: PBS was the most common finding in our patients with CF. It may be exacerbated by the warm weather conditions in our country. It may be a clue for early diagnosis of CF.

العلاقة: Journal of Dr Behcet Uz Childrens Hospital; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.4274/buchd.galenos.2023.4452Test; https://hdl.handle.net/11454/91346Test; 13; 94; 100

الإتاحة: https://doi.org/10.4274/buchd.galenos.2023.4452Test
https://hdl.handle.net/11454/91346Test

المؤلفون: Prawin Kumar, Neeraj Gupta, Daisy Khera, Kuldeep Singh

المصدر: Journal of Clinical and Diagnostic Research, Vol 12, Iss 9, Pp SR01-SR03 (2018)

مصطلحات موضوعية: hypochloraemia, metabolic alkalosis, pseudo-bartter syndrome, Medicine

الوصف: Cystic Fibrosis (CF) is predominantly a disease of Caucasians, but it is increasingly being recognised in India. The typical presentations of CF are recurrent pneumonia and malabsorption. Atypical presentations are also increasingly being reported from India due to the differences in genotype and environmental factors. Pseudo-Bartter syndrome (PBS) is one of these atypical presentations which can present at any time after the diagnosis of CF but its presentation as an initial manifestation is rare. We hereby report three infants who presented with dehydration without obvious external losses. The investigations revealed metabolic alkalosis with hypochloraemia. A stepwise approach towards metabolic alkalosis revealed possibility of cystic fibrosis which was confirmed by sweat chloride test. All infants completely recovered with initial fluid and electrolyte therapy, following which supportive therapy for CF was started and subsequently they were discharged from the hospital.

وصف الملف: electronic resource

العلاقة: https://jcdr.net/articles/PDF/11965/36189_CETest[Ra1]_F(SHU)_PF1(MJ_AP)_PFA(MJ_AP)_PB(MJ_AP)_PN(AP).pdf; https://doaj.org/toc/2249-782XTest; https://doaj.org/toc/0973-709XTest

الوصول الحر: https://doaj.org/article/f512c28999194d12b2ff6339c928aea2Test

المؤلفون: Dimitri Poddighe, Lucia Castelli, Elena Virginia Comi, Ilaria Brambilla, Paola Bruni

المصدر: Journal of Pediatric and Neonatal Individualized Medicine, Vol 7, Iss 1, Pp e070105-e070105 (2017)

مصطلحات موضوعية: pseudo-bartter syndrome, metabolic alkalosis, hyponatremia, cystic fibrosis, child, Medicine, Pediatrics, RJ1-570

الوصف: Dehydration with multiple salt abnormalities is frequently encountered in the paediatric emergency department, during acute illnesses complicated by loss of body fluids. Metabolic alkalosis is not a common finding in dehydrated children. The presence of unusual electrolyte unbalance, such as metabolic alkalosis, hyponatremia, hypochloremia and hypokalemia, without evidence of renal tubular defects, is named as pseudo-Bartter syndrome. It can occur in several clinical settings and, in infancy, it is described as a potential complication of cystic fibrosis. We report a case of pseudo-Bartter syndrome representing the onset of cystic fibrosis in childhood.

وصف الملف: electronic resource

العلاقة: https://www.jpnim.com/index.php/jpnim/article/view/536Test; https://doaj.org/toc/2281-0692Test

الوصول الحر: https://doaj.org/article/1bf72ef41d764cadb88117a63fcbb629Test

المؤلفون: Vilotijević-Dautović Gordana, Stojanović Vesna

المصدر: Srpski Arhiv za Celokupno Lekarstvo, Vol 143, Iss 11-12, Pp 748-751 (2015)

مصطلحات موضوعية: cystic fibrosis, pseudo-Bartter syndrome, infants, Medicine

الوصف: Introduction. Pseudo-Bartter syndrome (PBS) is characterized by hyponatremic, hypochloremic metabolic alkalosis that mimics Bartter syndrome but with no pathology in the renal tubules. We present five patients with cystic fibrosis (CF) and PBS. Cases Outline. Four children aged between three and five-and-one-half months with previously diagnosed CF and one aged 17 months with previously undiagnosed disease, were hospitalized during the summer season, with severe dehydration, oliguria, apathy and adynamia. Additionally, one of them had an ileostomy due to meconium ileus after birth. All children were on a diet without additional salt intake. Laboratory analysis on admission showed hyponatremia (115-133 mmol/L, mean 122.4 mmol/L), high plasma renin activity (229-500 pg/ml, mean 324 pg/ml) and metabolic alkalosis (pH 7.5-7.6, mean 7.56) in all the patients, and in four of them high blood level of aldosterone (74-560 pg/ml, mean 295.9 pg/ml), hypokalemia (2.3-2.8 mmol/L, mean 2.6 mmol/L), hypochloremia (59-71 mmol/L, mean 66 mmol/L) and low urinary sodium (5-12 mmol/L, mean 9 mmol/L). After intravenous rehydration followed by additional use of sodium and chloride in mean dosis of 1.78 mmol/kg per day, all the patients made a complete recovery. With advice for additional use of salt in the mentioned amount, the patients were discharged from the hospital. Conclusion. PBS is one of CF complications, especially in infants and young children in situations accompanied by increased sweating and/or other causes of additional loss of sodium and chlorine. Sometimes, as was the case with one of our patients, PBS may be the initial presentation form of the disease.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/0370-8179Test; https://doaj.org/toc/2406-0895Test

الوصول الحر: https://doaj.org/article/3b198519223840f89bafaa48fb9f890aTest