지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2021.1
- 수록면
- 35 - 39 (5page)
이용수
초록· 키워드
오류제보하기
Bartter syndrome is an autosomal recessive hypokalemic salt-losing tubulopathy, and classic Bartter syndrome is associated with mutations in the CLCNKB gene. While chronic hypokalemia is known to induce renal cyst formation in different renal diseases, renal cyst formation in Bartter syndrome is rarely reported. Russian six-year-old identical male twins were referred to our hospital for the evaluation of renal cysts, which were incidentally detected on abdominal sonography due to diarrhea. Both twins had shown symptoms of polydipsia, polyuria, and nocturia since they were one year olds. Vital signs including blood pressure were normal in both twins. Renal sonography revealed nephromegaly, increased echogenicity of renal cortex, and various sized multiple cysts in both kidneys for both twins. Laboratory findings included hyponatremia, hypokalemia, hypochloremia, and metabolic alkalosis. Bartter syndrome with renal cysts were suspected. Genetic analysis for both twins confirmed a homozygous c.1614delC deletion on exon 15 of the CLCNKB gene, which was confirmed as a previously unreported variant to the best of our knowledge. They were managed with potassium chloride, nonsteroidal antiinflammatory drugs, and angiotensin-converting-enzyme inhibitors. Metabolic alkalosis, hypokalemia, hypochloremia, and polyuria partially improved during the short course of treatment. This is the first report of a homozygous mutation in the CLCNKB gene in an identical twin, presenting with renal cysts.
목차
등록된 정보가 없습니다.
참고문헌 (15)
참고문헌 신청
Walsh PR / 2018 / Clinical and diagnostic features of Bartter and Gitelman syndromes / Clinical Kidney Journal 11:302~309
Andrini O / 2015 / ClC-K chloride channels : emerging pathophysiology of Bartter syndrome type 3 / Am J Physiol Renal Physiol 308:F1324~F1334
Bartter FC / 1962 / Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis : a new syndrome / Am J Med 33:811~828
Yang X / 2018 / Bartter Syndrome type 3 : Phenotype-genotype correlation and favorable response to ibuprofen / Front Pediatr 6:153
Besouw MT / 2019 / Bartter and Gitelman syndromes : Questions of class / Pediatric Nephrology :1~10
Andrini O / 2015 / ClC-K chloride channels : emerging pathophysiology of Bartter syndrome type 3 / Am J Physiol Renal Physiol 308:F1324~F1334
Bartter FC / 1962 / Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis : a new syndrome / Am J Med 33:811~828
Yang X / 2018 / Bartter Syndrome type 3 : Phenotype-genotype correlation and favorable response to ibuprofen / Front Pediatr 6:153
Besouw MT / 2019 / Bartter and Gitelman syndromes : Questions of class / Pediatric Nephrology :1~10
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Bartter 증후군 환아의 치아우식 치료: 증례보고
International Journal of Disability and Oral Health
2019 .06
-
Bartter Syndrome: Perspectives of a Pediatric Nephrologist
Electrolytes & Blood Pressure
2022 .12
-
An Adult Case of Bartter Syndrome Type III Presenting with Proteinuria
Journal of Pathology and Translational Medicine
2016 .01
-
Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C
Clinical and Experimental Pediatrics
2015 .01
-
A renal oncocytoma in a Maltese dog with renal cysts
Korean Journal of Veterinary Research(대한수의학회지)
2019 .05
-
Pseudo-Gitelman Syndrome Presenting with Hypokalemic Metabolic Alkalosis and Hypocalciuria
Electrolytes & Blood Pressure
2023 .12
-
Renal Problems in Early Adult Patients with Turner Syndrome
Childhood Kidney Diseases
2015 .01
-
치과 임상에서 흔하고 의미있는 낭종
대한치과의사협회지
2017 .07
-
[Surgery] Use of intraoperative impression smear cytology to guide successful treatment of a large renal cyst in a dog: a case report
Journal of Veterinary Science
2022 .03
-
Measurement and Estimation of Renal Size by Computed Tomography in Korean Children
Journal of Korean Medical Science
2017 .01
-
Rare Nonneoplastic Cysts of Pancreas
Clinical Endoscopy
2015 .01
-
Cell-based therapy for kidney disease
Investigative and Clinical Urology
2015 .01
-
Influence of vascular endothelial growth factor inhibition on simple renal cysts in patients receiving bevacizumab-based chemotherapy
Investigative and Clinical Urology
2015 .01
-
Renal Actinomycosis Initially Misdiagnosed as Renal Cell Carcinoma with Renal Vein Thrombosis
Urogenital Tract Infection
2016 .01
-
소아 청소년 환자에서 발생한 269개의 구강 악안면 영역 낭 : 10년간의 후향적 임상 연구
대한소아치과학회지
2016 .01
-
Relationship of Renal Echogenicity with Renal Pathology and Function
Childhood Kidney Diseases
2017 .01
-
Down syndrome with asymptomatic neuroglial cyst: A case report and review of the literature
Journal of genetic medicine
2017 .01
-
Hypokalemic Hypertension Leading to a Diagnosis of Autosomal Dominant Polycystic Kidney Disease
Electrolytes & Blood Pressure
2016 .01
-
Multiple Congenital Pancreatic Cysts in a Neonate
Neonatal medicine
2019 .01
-
A retrospective study of cysts in the maxillofacial area
Oral Biology Research
2019 .01
이 논문의 저자 정보
최근 본 자료
댓글(0)
0