المؤلفون: Qian Li, Jing Wang, Ruixian Zang, Lichun Yu, Zhenle Yang, Shuzhen Sun

المصدر: BMC Pediatrics, Vol 24, Iss 1, Pp 1-7 (2024)

مصطلحات موضوعية: Congenital chloride diarrhoea, Solute carrier family 26 member 3, Child, Metabolic alkalosis, Hypochloraemia, Hypokalaemia, Pediatrics, RJ1-570

الوصف: Abstract Introduction Congenital chloride diarrhoea (CCD) is an autosomal recessive condition that causes secretory diarrhoea and potentially deadly electrolyte imbalances in infants because of solute carrier family 26 member 3 (SLC26A3) gene mutations. Case presentation A 7-month-old Chinese infant with a history of maternal polyhydramnios presented with frequent watery diarrhoea, severe dehydration, hypokalaemia, hyponatraemia, failure to thrive, metabolic alkalosis, hyperreninaemia, and hyperaldosteronaemia. Genetic testing revealed a compound heterozygous SLC26A3 gene mutation in this patient (c.269_270dup and c.2006 C > A). Therapy was administered in the form of oral sodium and potassium chloride supplements, which decreased stool frequency. Conclusions CCD should be considered when an infant presents with prolonged diarrhoea during infancy, particularly in the context of maternal polyhydramnios and dilated foetal bowel loops.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2431Test

الوصول الحر: https://doaj.org/article/ec01a473625a4b6faec5b84abfaa5389Test

المؤلفون: Norsa, Lorenzo, Berni Canani, Roberto, Duclaux-Loras, Remi, Bequet, Emeline, Köglmeier, Jutta, Russell, Richard K., Uhlig, Holm H., Travis, Simon, Hollis, Jennifer, Koletzko, Sibylle, Grimaldi, Giusi, Castaldo, Giuseppe, Rodrigues, Astor, Deflandre, Jaques, Dembinski, Lukasz, Shah, Neil, Heinz-Erian, Peter, Janecke, Andreas, Leskinen, Saara, Wedenoja, Satu, Koskela, Ritva, Lachaux, Alain, Kolho, Kaija Leena, Ruemmele, Frank M.

المساهمون: HUS Gynecology and Obstetrics, University of Helsinki, Department of Obstetrics and Gynecology, Clinicum, Children's Hospital, HUS Children and Adolescents

مصطلحات موضوعية: 3121 General medicine, internal medicine and other clinical medicine, congenital chloride diarrhoea, Crohn's disease, monogenic disease, SLC26A3, ulcerative colitis, REDUCES EXPRESSION, TUMOR-NECROSIS-FACTOR, DRA, GENE, COLITIS, ALKALOSIS, ADENOMA, MICE, MUTATIONS

الوصف: Background: Congenital chloride diarrhoea [CLD] is a rare autosomal recessive disease caused by mutations in the solute family carrier 26 member 3 [SLC26A3] gene. Patients suffer from life-long watery diarrhoea and chloride loss. Inflammatory bowel disease [IBD] has been reported in individual patients with CLD and in scl26a3-deficient mice. Methods: We performed an international multicentre analysis to build a CLD cohort and to identify cases with IBD. We assessed clinical and genetic characteristics of subjects and studied the cumulative incidence of CLD-associated IBD. Results: In a cohort of 72 patients with CLD caused by 17 different SLC26A3 mutations, we identified 12 patients [17%] diagnosed with IBD. Nine patients had Crohn's disease, two ulcerative colitis and one IBD-unclassified [IBD-U]. The prevalence of IBD in our cohort of CLD was higher than the highest prevalence of IBD in Europe [p < 0.0001]. The age of onset was variable [13.5 years, interquartile range: 8.5-23.5 years]. Patients with CLD and IBD had lower z-score for height than those without IBD. Four of 12 patients had required surgery [ileostomy formation n = 2, ileocaecal resection due to ileocaecal valve stenosis n = 1 and colectomy due to stage II transverse colon cancer n = 1]. At last follow-up, 5/12 were on biologics [adalimumab, infliximab or vedolizumab], 5/12 on immunosuppressants [azathioprine or mercaptopurine], one on 5-ASA and one off-treatment. Conclusions: A substantial proportion of patients with CLD develop IBD. This suggests the potential involvement of SL26A3-mediated anion transport in IBD pathogenesis. Patients with CLD-associated IBD may require surgery for treatment failure or colon cancer. ; Peer reviewed

وصف الملف: application/pdf

العلاقة: Norsa , L , Berni Canani , R , Duclaux-Loras , R , Bequet , E , Köglmeier , J , Russell , R K , Uhlig , H H , Travis , S , Hollis , J , Koletzko , S , Grimaldi , G , Castaldo , G , Rodrigues , A , Deflandre , J , Dembinski , L , Shah , N , Heinz-Erian , P , Janecke , A , Leskinen , S , Wedenoja , S , Koskela , R , Lachaux , A , Kolho , K L & Ruemmele , F M 2021 , ' Inflammatory Bowel Disease in Patients with Congenital Chloride Diarrhoea ' , Journal of Crohn's and Colitis , vol. 15 , no. 10 , pp. 1679-1685 . https://doi.org/10.1093/ecco-jcc/jjab056Test; ORCID: /0000-0003-0212-4851/work/104209903; ORCID: /0000-0001-9170-8415/work/104212300; 85118283616; 23ce510b-53ac-42e6-ac99-7f260ba32374; http://hdl.handle.net/10138/342065Test; 000711392000007

الإتاحة: http://hdl.handle.net/10138/342065Test

المؤلفون: Igrutinović Zoran, Peco-Antić Amira, Radlović Nedeljko, Vuletić Biljana, Marković Slavica, Vujić Ana, Rašković Zorica

المصدر: Srpski Arhiv za Celokupno Lekarstvo, Vol 139, Iss 9-10, Pp 677-680 (2011)

مصطلحات موضوعية: pseudo-Bartter syndrome, congenital chloride diarrhoea, diagnostics, Medicine

الوصف: Introduction. Pseudo-Bartter syndrome encompasses a heterogenous group of disorders similar to Bartter syndrome. We are presenting an infant with pseudo-Bartter syndrome caused by congenital chloride diarrhoea. Case Outline. A male newborn born in the 37th gestational week (GW) to young healthy and non-consanguineous parents. In the 35th GW a polyhydramnios with bowel dilatation was verified by ultrasonography. After birth he manifested several episodes of hyponatremic dehydration with hypochloraemia, hypokalaemia and metabolic alkalosis, so as Bartter syndrome was suspected treatment with indomethacin, spironolactone and additional intake of NaCl was initiated. However, this therapy gave no results, so that at age six months he was rehospitalized under the features of persistent watery diarrhoea, vomiting, dehydration and acute renal failure (serum creatinine 123 μmol/L). The laboratory results showed hyponatraemia (123 mmol/L), hypokalaemia (3.1 mmol/L), severe hypochloraemia (43 mmol/L), alcalosis (blood pH 7.64, bicarbonate 50.6 mmol/L), high plasma renin (20.6 ng/ml) and aldosterone (232.9 ng/ml), but a low urinary chloride concentration (2.1 mmol/L). Based on these findings, as well as the stool chloride concentration of 110 mmol/L, the patient was diagnosed congenital chloride diarrhoea. In further course, the patient was treated by intensive fluid, sodium and potassium supplementation which resulted in the normalization of serum electrolytes, renal function, as well as his mental and physical development during 10 months of follow-up. Conclusion. Persistent watery diarrhoea with a high concentration of chloride in stool is the key finding in the differentiation of congenital chloride diarrhoea from Bartter syndrome. The treatment of congenital chloride diarrhoea consists primarily of adequate water and electrolytes replacement.

وصف الملف: electronic resource

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

الوصول الحر: https://doaj.org/article/050b8e36cae048eb9a3e71477acbfb3eTest

المؤلفون: Ritva Koskela, Jennifer Hollis, Frank M. Ruemmele, Giuseppe Castaldo, Lorenzo Norsa, Giusi Grimaldi, Emeline Bequet, Peter Heinz-Erian, Holm H. Uhlig, Saara Leskinen, Remi Duclaux-Loras, Simon Travis, Alain Lachaux, Roberto Berni Canani, Kaija-Leena Kolho, Astor Rodrigues, Lukasz Dembinski, Jaques Deflandre, Neil Shah, Richard K. Russell, Andreas R. Janecke, Satu Wedenoja, Jutta Köglmeier, Sibylle Koletzko

المساهمون: Norsa, Lorenzo, Berni Canani, Roberto, Duclaux-Loras, Remi, Bequet, Emeline, Köglmeier, Jutta, Russell, Richard K, Uhlig, Holm H, Travis, Simon, Hollis, Jennifer, Koletzko, Sibylle, Grimaldi, Giusi, Castaldo, Giuseppe, Rodrigues, Astor, Deflandre, Jaque, Dembinski, Lukasz, Shah, Neil, Heinz-Erian, Peter, Janecke, Andrea, Leskinen, Saara, Wedenoja, Satu, Koskela, Ritva, Lachaux, Alain, Kolho, Kaija-Leena, Ruemmele, Frank M, HUS Gynecology and Obstetrics, University of Helsinki, Department of Obstetrics and Gynecology, Clinicum, Children's Hospital, HUS Children and Adolescents

المصدر: Journal of Crohn'scolitis. 15(10)

مصطلحات موضوعية: Crohn’s disease, Male, medicine.medical_treatment, Gastroenterology, Inflammatory bowel disease, Cohort Studies, 0302 clinical medicine, Prevalence, Chloride-Bicarbonate Antiporters, Child, TUMOR-NECROSIS-FACTOR, Colectomy, 0303 health sciences, Crohn's disease, biology, General Medicine, congenital chloride diarrhoea, Ulcerative colitis, 3. Good health, Europe, Sulfate Transporters, 030211 gastroenterology & hepatology, Female, congenital chloride diarrhea, COLITIS, medicine.drug, Adult, Diarrhea, medicine.medical_specialty, Congenital chloride diarrhea, Adolescent, SLC26A3, ALKALOSIS, Vedolizumab, 03 medical and health sciences, Young Adult, Internal medicine, medicine, Humans, 030304 developmental biology, ulcerative colitis, MUTATIONS, business.industry, medicine.disease, Inflammatory Bowel Diseases, GENE, DRA, digestive system diseases, Infliximab, ADENOMA, MICE, 3121 General medicine, internal medicine and other clinical medicine, Mutation, biology.protein, monogenic disease, REDUCES EXPRESSION, business, Metabolism, Inborn Errors

الوصف: Background Congenital chloride diarrhoea [CLD] is a rare autosomal recessive disease caused by mutations in the solute family carrier 26 member 3 [SLC26A3] gene. Patients suffer from life-long watery diarrhoea and chloride loss. Inflammatory bowel disease [IBD] has been reported in individual patients with CLD and in scl26a3-deficient mice. Methods We performed an international multicentre analysis to build a CLD cohort and to identify cases with IBD. We assessed clinical and genetic characteristics of subjects and studied the cumulative incidence of CLD-associated IBD. Results In a cohort of 72 patients with CLD caused by 17 different SLC26A3 mutations, we identified 12 patients [17%] diagnosed with IBD. Nine patients had Crohn’s disease, two ulcerative colitis and one IBD-unclassified [IBD-U]. The prevalence of IBD in our cohort of CLD was higher than the highest prevalence of IBD in Europe [p < 0.0001]. The age of onset was variable [13.5 years, interquartile range: 8.5–23.5 years]. Patients with CLD and IBD had lower z-score for height than those without IBD. Four of 12 patients had required surgery [ileostomy formation n = 2, ileocaecal resection due to ileocaecal valve stenosis n = 1 and colectomy due to stage II transverse colon cancer n = 1]. At last follow-up, 5/12 were on biologics [adalimumab, infliximab or vedolizumab], 5/12 on immunosuppressants [azathioprine or mercaptopurine], one on 5-ASA and one off-treatment. Conclusions A substantial proportion of patients with CLD develop IBD. This suggests the potential involvement of SL26A3-mediated anion transport in IBD pathogenesis. Patients with CLD-associated IBD may require surgery for treatment failure or colon cancer.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::574f816a2d1a4fa078cef8ea18b48733Test
https://pubmed.ncbi.nlm.nih.gov/33770165Test

المؤلفون: Amira Peco-Antic, Zorica Raskovic, Slavica Markovic, Nedeljko Radlovic, Biljana Vuletic, Zoran Igrutinovic, Ana Vujic

المصدر: Srpski Arhiv za Celokupno Lekarstvo, Vol 139, Iss 9-10, Pp 677-680 (2011)

مصطلحات موضوعية: Diarrhea, Male, medicine.medical_specialty, Urinary system, Metabolic alkalosis, lcsh:Medicine, Renal function, Bartter syndrome, Gastroenterology, chemistry.chemical_compound, Internal medicine, diagnostics, medicine, Humans, pseudo-Bartter syndrome, Creatinine, Aldosterone, business.industry, lcsh:R, Infant, Newborn, Bartter Syndrome, General Medicine, congenital chloride diarrhoea, medicine.disease, Endocrinology, chemistry, Vomiting, Spironolactone, medicine.symptom, business, Metabolism, Inborn Errors

الوصف: Introduction. Pseudo-Bartter syndrome encompasses a heterogenous group of disorders similar to Bartter syndrome. We are presenting an infant with pseudo-Bartter syndrome caused by congenital chloride diarrhoea. Case Outline. A male newborn born in the 37th gestational week (GW) to young healthy and non-consanguineous parents. In the 35th GW a polyhydramnios with bowel dilatation was verified by ultrasonography. After birth he manifested several episodes of hyponatremic dehydration with hypochloraemia, hypokalaemia and metabolic alkalosis, so as Bartter syndrome was suspected treatment with indomethacin, spironolactone and additional intake of NaCl was initiated. However, this therapy gave no results, so that at age six months he was rehospitalized under the features of persistent watery diarrhoea, vomiting, dehydration and acute renal failure (serum creatinine 123 ?mol/L). The laboratory results showed hyponatraemia (123 mmol/L), hypokalaemia (3.1 mmol/L), severe hypochloraemia (43 mmol/L), alcalosis (blood pH 7.64, bicarbonate 50.6 mmol/L), high plasma renin (20.6 ng/ml) and aldosterone (232.9 ng/ml), but a low urinary chloride concentration (2.1 mmol/L). Based on these findings, as well as the stool chloride concentration of 110 mmol/L, the patient was diagnosed congenital chloride diarrhoea. In further course, the patient was treated by intensive fluid, sodium and potassium supplementation which resulted in the normalization of serum electrolytes, renal function, as well as his mental and physical development during 10 months of follow-up. Conclusion. Persistent watery diarrhoea with a high concentration of chloride in stool is the key finding in the differentiation of congenital chloride diarrhoea from Bartter syndrome. The treatment of congenital chloride diarrhoea consists primarily of adequate water and electrolytes replacement.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d49924ec916de2b3183fa5682e8053f5Test
https://doi.org/10.2298/sarh1110677iTest

المؤلفون: Susan M. Howitt

المصدر: Biochimica et Biophysica Acta (BBA) - Biomembranes. 1669(2):95-100

مصطلحات موضوعية: Pendred syndrome, Blotting, Western, Molecular Sequence Data, Biophysics, Saccharomyces cerevisiae, Biology, Protein Engineering, Biochemistry, Protein Structure, Secondary, chemistry.chemical_compound, Protein structure, Sulphate transporter, Amino Acid Sequence, Cysteine, Cysteine metabolism, Alanine, chemistry.chemical_classification, Site-directed mutagenesis, Diastrophic dysplasia, Wild type, Transporter, Fabaceae, Cell Biology, Amino acid, Congenital chloride diarrhoea, chemistry, Mutation, Leucine, Carrier Proteins, Sequence Alignment

الوصف: We investigated the role of cysteine residues in the sulphate transporter, SHST1, with the aim of generating a functional cysteine-less variant. SHST1 contains five cysteine residues and none was essential for function. However, replacement of C421 resulted in a reduction in transport activity. Sulphate transport by C205 mutants was dependent on the size of the residue at this position. Alanine at position 205 resulted in a complete loss of function whereas leucine resulted in a 3-fold increase in sulphate transport relative to wild type SHST1. C205 is located in a putative intracellular loop and our results suggest that this loop may be important for sulphate transport. By replacing C205 with leucine and the other four cysteine residues with alanine, we constructed a cysteine-less variant of SHST1 that has transport characteristics indistinguishable from wild type. This construct will be useful for further structure and function studies of SHST1.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd70c81f8e91a3a4ec88b1e3a84bebb3Test

المؤلفون: Howitt, Susan

المصدر: Biochimica et Biophysica Acta: International journal of Biochemistry and Biophysics

مصطلحات موضوعية: Keywords: alanine, amino acid, carrier protein, carrier protein shst1, cysteine, leucine, sulfate, unclassified drug, article, controlled study, mutant, nonhuman, nucleotide sequence, priority journal, protein function, protein structure, wild type, yeast, Amino Ac Congenital chloride diarrhoea, Diastrophic dysplasia, Pendred syndrome, Site-directed mutagenesis, Sulphate transporter

الوصف: We investigated the role of cysteine residues in the sulphate transporter, SHST1, with the aim of generating a functional cysteine-less variant. SHST1 contains five cysteine residues and none was essential for function. However, replacement of C421 resulted in a reduction in transport activity. Sulphate transport by C205 mutants was dependent on the size of the residue at this position. Alanine at position 205 resulted in a complete loss of function whereas leucine resulted in a 3-fold increase in sulphate transport relative to wild type SHST1. C205 is located in a putative intracellular loop and our results suggest that this loop may be important for sulphate transport. By replacing C205 with leucine and the other four cysteine residues with alanine, we constructed a cysteine-less variant of SHST1 that has transport characteristics indistinguishable from wild type. This construct will be useful for further structure and function studies of SHST1.

العلاقة: http://hdl.handle.net/1885/83121Test; https://openresearch-repository.anu.edu.au/bitstream/1885/83121/5/MigratedxPub11330_2005.pdf.jpgTest; https://openresearch-repository.anu.edu.au/bitstream/1885/83121/7/01_Howitt_The_role_of_cysteine_residues_2005.pdf.jpgTest

الإتاحة: https://doi.org/10.1016/j.bbamem.2005.01.002Test
http://hdl.handle.net/1885/83121Test
https://openresearch-repository.anu.edu.au/bitstream/1885/83121/5/MigratedxPub11330_2005.pdf.jpgTest
https://openresearch-repository.anu.edu.au/bitstream/1885/83121/7/01_Howitt_The_role_of_cysteine_residues_2005.pdf.jpgTest

المصدر: Biochimica et Biophysica Acta: International journal of Biochemistry and Biophysics

مستخلص: We investigated the role of cysteine residues in the sulphate transporter, SHST1, with the aim of generating a functional cysteine-less variant. SHST1 contains five cysteine residues and none was essential for function. However, replacement of C421 resulted in a reduction in transport activity. Sulphate transport by C205 mutants was dependent on the size of the residue at this position. Alanine at position 205 resulted in a complete loss of function whereas leucine resulted in a 3-fold increase in sulphate transport relative to wild type SHST1. C205 is located in a putative intracellular loop and our results suggest that this loop may be important for sulphate transport. By replacing C205 with leucine and the other four cysteine residues with alanine, we constructed a cysteine-less variant of SHST1 that has transport characteristics indistinguishable from wild type. This construct will be useful for further structure and function studies of SHST1.

مصطلحات الفهرس: Keywords: alanine; amino acid; carrier protein; carrier protein shst1; cysteine; leucine; sulfate; unclassified drug; article; controlled study; mutant; nonhuman; nucleotide sequence; priority journal; protein function; protein structure; wild type; yeast; Amino Ac Congenital chloride diarrhoea; Cysteine; Diastrophic dysplasia; Pendred syndrome; Site-directed mutagenesis; Sulphate transporter, Journal article

URL: http://hdl.handle.net/1885/83121Test