• Clinical and Experimental Pediatrics
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• 제45권11호
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• pp.1430-1434
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• 2002

저자들은 성장 장애, 만성적인 구토, 저칼륨혈증, 저염소성 대사성 알카리혈증, 고레닌혈증, 고알도스테론혈증, 정상 혈압과 부종결여 등의 Bartter 증후군의 임상형태를 보였으나 요중 클로라이드 농도가 감소되어 있고 초음파 검사상 비후성 유문 협착증으로 진단수술 후 칼륨과 프로스타글란딘 억제제 등의 약물치료 없이도 회복된 가성 Bartter 증후군을 1례 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Journal of Yeungnam Medical Science
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• 제11권2호
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• pp.388-397
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• 1994

심한 저칼륨혈증, 대사성 알카리혈증과 성장 장애를 가져오는 대표적인 질환인 Bartter 증후군 환아가 경막하 혈종에 의한 경련이 동반되어, 선생검으로 본 질환을 확진하고, 근치적 치료로 양호한 반응을 나타내었던 1례를 문헌 고찰과 아울러 보고 하는 바이다.

• Clinical and Experimental Pediatrics
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• 제58권4호
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• pp.148-153
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• 2015

The calcium sensing receptor (CaSR) plays an important role in calcium homeostasis. Activating mutations of CaSR cause autosomal dominant hypocalcemia by affecting parathyroid hormone secretion in parathyroid gland and calcium resorption in kidney. They can also cause a type 5 Bartter syndrome by inhibiting the apical potassium channel in the thick ascending limb of the loop of Henle in the kidney. This study presents a patient who had autosomal dominant hypocalcemia with Bartter syndrome due to an activating mutation Y829C in the transmembrane domain of the CaSR. Symptoms of hypocalcemia occurred 12 days after birth and medication was started immediately. Medullary nephrocalcinosis and basal ganglia calcification were found at 7 years old and at 17 years old. Three hypercalcemic episodes occurred, one at 14 years old and two at 17 years old. The Bartter syndrome was not severe while the serum calcium concentration was controlled, but during hypercalcemic periods, the symptoms of Bartter syndrome were aggravated.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.103-106
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• 2016

Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of patients with CLCNKB mutations has been known to be highly variable, and cases that are difficult to categorize as type III BS or other hereditary tubulopathies, such as Gitelman syndrome, have been rarely reported. We report a case of a 10-year-old Korean boy with atypical clinical findings caused by a novel CLCNKB mutation. The boy showed intermittent muscle cramps with laboratory findings of hypokalemia, severe hypomagnesemia, and nephrocalcinosis. These findings were not fully compatible with those observed in cases of BS or Gitelman syndrome. The CLCNKB mutation analysis revealed a heterozygous c.139G>A transition in exon 13 [p.Gly(GGG)465Glu(GAG)]. This change is not a known mutation; however, the clinical findings and in silico prediction results indicated that it is the underlying cause of his presentation.

• Clinical and Experimental Pediatrics
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• 제53권8호
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• pp.809-813
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• 2010

Bartter syndrome (BS) is an autosomal recessively inherited rare renal tubular disorder characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism with normal to low blood pressure due to a renal loss of sodium. Genetically, BS is classified into 5 subtypes according to the underlying genetic defects, and BS is clinically categorized into antenatal BS and classical BS according to onset age. BS type I is caused by loss-of-function mutations in the $SLC12A1$ gene and usually manifests as antenatal BS. This report concerns a male patient with compound heterozygous missense mutations on $SLC12A1$ (p.C436Y and p.L560P) and atypical clinical and laboratory features. The patient had low urinary sodium and chloride levels without definite metabolic alkalosis until the age of 32 months, which led to confusion between BS and nephrogenic diabetes insipidus (NDI). In addition, the clinical onset of the patient was far beyond the neonatal period. Genetic study eventually led to the diagnosis of BS type I. The low urinary sodium and chloride concentrations may be caused by secondary NDI, and the later onset may suggest the existence of a genotype-phenotype correlation. In summary, BS type I may have phenotype variability including low urine sodium and chloride levels and later onset. A definitive diagnosis can be confirmed by genetic testing.

• Clinical and Experimental Pediatrics
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• 제54권1호
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• pp.36-39
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• 2011

Bartter syndrome (BS) is a clinically and genetically heterogeneous inherited renal tubular disorder characterized by renal salt wasting, hypokalemic metabolic alkalosis and normotensive hyperreninemic hyperaldosteronism. There have been several case reports of BS complicated by focal segmental glomerulosclerosis (FSGS). Here, we have reported the case of a BS patient who developed FSGS and subsequent end-stage renal disease (ESRD) and provided a brief literature review. The patient presented with classic BS at 3 months of age and developed proteinuria at 7 years. Renal biopsy performed at 11 years of age revealed a FSGS perihilar variant. Hemodialysis was initiated at 11 years of age, and kidney transplantation was performed at 16 years of age. The post-transplantation course has been uneventful for more than 3 years with complete disappearance of BS without the recurrence of FSGS. Genetic study revealed a homozygous p.Trp(TGG)610Stop(TGA) mutation in the CLCNKB gene. In summary, BS may be complicated by secondary FSGS due to the adaptive response to chronic salt-losing nephropathy, and FSGS may progress to ESRD in some patients. Renal transplantation in patients with BS and ESRD results in complete remission of BS.

• Childhood Kidney Diseases
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• 제27권2호
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• pp.105-110
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• 2023

Purpose: To analyze electrocardiograms (ECGs) of patients with a salt-losing tubulopathy (SLT) and to determine the frequency and risk factors for long QT and arrhythmia. Methods: A total of 203 patients aged <19 years with SLT, specifically Bartter syndrome and Gitelman syndrome, who had a 12-lead ECG were included in this retrospective study. We analyzed the presence of an arrhythmia or prolonged corrected QT (QTc) on ECGs obtained for these patients. Demographic and laboratory data were compared between patients with abnormal and normal ECG findings. Results: Out of the 203 SLT patients, 38 (18.7%) underwent electrocardiography and 10 (40.0%) of 25 patients with inherited SLT had abnormal ECG findings, including prolonged QTc and arrhythmias. The abnormal ECG group had significantly lower serum potassium levels than the normal group (median [interquartile range]: 2.50 mmol/L [2.20-2.83] vs. 2.90 mmol/L [2.70-3.30], P=0.036), whereas other serum chemistry values did not show significant differences. The cutoff level for a significant difference in QTc interval was serum potassium level <2.50 mmol/L. One cardiac event occurred in a 13-year-old boy, who developed paroxysmal supraventricular tachycardia and underwent cardiac ablation. No sudden cardiac deaths occurred in this cohort. Conclusions: The incidence of ECG abnormalities in patients with inherited SLT was 40.0%, whereas the ECG screening rate was relatively low (18.7%). Therefore, we recommend ECG screening in patients with inherited SLT, especially in those with serum potassium level <2.50 mmol/L.

• Clinical and Experimental Pediatrics
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• 제57권1호
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• pp.1-18
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• 2014

Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles. These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis). The field of channelopathies is expanding rapidly, as is the utility of molecular-genetic and electrophysiological studies. This review provides a brief overview and update of channelopathies, with a focus on recent advances in the pathophysiological mechanisms that may help clinicians better understand, diagnose, and develop treatments for these diseases.

• Clinical and Experimental Pediatrics
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• 제45권3호
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• pp.413-417
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• 2002

증후군은 원위세뇨관 Na-Cl 공동운반체 유전자 이상으로 발생하는 상염색체 열성 유전질환으로, 저칼륨혈증, 저마그네슘혈증, 대사성 알칼리증, 그리고 저칼슘뇨증 등의 임상적 특징을 보이는 질환이다. 저자들은 Bartter 증후군과의 감별진단과 Gitelman 증후군의 확진을 위해 임상적으로 Gitelman 증후군이 의심되는 두명의 환아에서 신장청소검사를 시행하였다. 각각의 환아는 밤사이 금식을 시킨 후 물 20 mL/kg를 30분에 걸쳐 경구 투여하였고, 곧 이어 half saline을 정맥을 통해 분당 5 mL의 속도로 투여하기 시작하였다. 소변양이 분당 10 mL에 도달했을 때의 검체로 삼투질제거율, 유리수분제거율, 염소제거율, 원위분획염소재흡수율을 계산하였다. 그 후에 첫째 날은 furosemide, 둘째 날은 hydrochlorothiazide를 각각 투여하고 나서 같은 신장청소검사를 시행하였다. 이뇨제를 투여하기 전 원위분획염소재흡수율은 각각 73%, 75%로 정상범위에서 약간 감소되어 있었다. furosemide를 투여한 후 삼투질제거율은 증가하였고 유리수분제거율은 감소하였다. 염소제거율은 10배 이상 증가하였으며, 원위분획염소재흡수율은 현저한 감소를 보였다. Thiazide를 투여한 후에는 위와 같은 청소율의 변화들을 관찰할 수 없었다. 신장청소 검사의 소견은 본 연구의 환아들이 헨레의 고리 상행각의 이상보다는 원위세뇨관 Na-Cl 공동운반체의 이상이 있음을 보여주고 있어 Gitelman 증후군의 병태 생리와 잘 일치한다고 사료된다.