Pseudohypoaldosteronism Type 1 with a NovelMutation in the NR3C2 Gene: A Case Report

Pseudohypoaldosteronism type 1 (PHA1) is a rare salt-wasting disorder caused byresistance to mineralocorticoid action. PHA1 is of two types with different levelsof disease severity and phenotype as follows: systemic type with an autosomalrecessiveinheritance (caused by mutations of the epithelial sodium channel)and renal type with an autosomal dominant inheritance (caused by mutations inthe mineralocorticoid receptor). The clinical manifestations of PHA1 vary widely;however,PHA1 commonly involves hyponatremia, hyperkalemia, metabolicacidosis and elevated levels of renin and aldosterone. The earliest signs of bothtype of PAH1 also comprise insufficiency weight gain due to chronic dehydrationand failure to thrive during infancy. Here, we report a case of renal PAH1 in a28-day-old male infant harboring a novel heterozygous mutation in NR3C2 gene(c.1341_1345dupAAACC in exon 2), showing only failure to thrive without thecharacteristic of dehydration.

Graves disease following rabbit antithymocyte globulin treatment of severe aplastic anemia in a Korean child / 소아과

Antithymocyte globulin (ATG) is used as an immunosuppressive treatment (IST) to deplete clonal suppressor T cells in patients with severe aplastic anemia (SAA). The depletion of suppressor T cells by ATG may affect the activation of B cells, which results in an increased risk for autoimmune conditions. A 12-year-old boy was diagnosed with idiopathic SAA. As he did not have an human leukocyte antigen-matched sibling, he was treated with rabbit ATG (3.5 mg/kg/day for 5 days) and cyclosporine. Five months later, he became transfusion independent. However, 23 months after IST, he complained of mild hand tremors, sweating, weight loss, palpitations, and goiter. Results of thyroid function tests revealed hyperthyroidism (free thyroxine, 3.42 ng/dL; thyroid stimulating hormone [TSH], <0.01 nIU/mL; triiodothyronine, 3.99 ng/mL). Results of tests for autoantibodies were positive for the antimicrosome antibody and TSH-binding inhibitory immunoglobulin, but negative for the antithyroglobulin antibody and antinuclear antibody. He was treated with methimazole, and his symptoms improved. The patient has been disease free for 39 months after IST and 9 months after methimazole treatment. This case report suggests that although rare, rabbit ATG may have implications in the pathogenesis of autoimmune hyperthyroidism. Our findings suggest that thyroid function tests should be incorporated in the routine follow-up of SAA patients treated with ATG.

Random Urinary Calcium/Creatinine Ratio for Screening Hypercalciuria in Children with Hematuria

BACKGROUND: Hypercalciuria is one of the most common causes of unexplained isolated hematuria. The diagnostic methods for hypercalciuria have not yet been standardized. The aim of this study was to assess whether random urinary calcium/creatinine ratio could be used as a screening tool for hypercalciuria in children with hematuria. METHODS: This prospective study included 264 children with primary hematuria for whom both random and 24 hr urinary evaluations were performed. Pearson correlation and ROC curve were used to assess the correlations. A multiple linear regression model was used to analyze effects of age, weight, height, body mass index, and body surface area on random urinary calcium/creatinine ratio. RESULTS: There was a moderately strong correlation between random urinary calcium/creatinine ratio and 24 hr urinary calcium excretion (r=0.584, P<0.001). The most appropriate cutoff value of random urinary calcium/creatinine ratio for the estimation of hypercalciuria was 0.075 mg/mg (sensitivity, 77.8%; specificity, 64.3%; area under the curve, 0.778). Body mass index and 24 hr urinary calcium excretion significantly affected random urinary calcium/creatinine ratio with a low coefficient of determination (r2=0.380, P<0.001). CONCLUSIONS: Random urinary calcium/creatinine ratio is not suitable for screening hypercalciuria in children with hematuria. Twenty-four hour urinary analysis should be performed to diagnose hypercalciuria in children with hematuria.

Effect of Indomethacin Treatment in Full-term Infants with Symptomatic Patent Ductus Arteriosus / 대한주산의학회잡지

PURPOSE: Indomethacin has been reported as the prophylaxis and initial treatment of preterm infants with patent ductus arteriosus (PDA). However, there was controversy over indomethacin treatment in full-term infants with symptomatic PDA. Therefore, we evaluate the effect of indomethacin as a treatment of full-term infants with symptomatic PDA. METHODS: A retrospective study was performed to evaluate the effectiveness of indomethacin in full-term infants who had birth weight > or =2,500 g and a gestational age > or =37 weeks with symptomatic PDA at Chonnam National University Hospital between January 2007 and December 2009. According to responsiveness of indomethacin, we classified them into three groups: 1) complete responder which were completely closed after indomethacin treatment, 2) partial responder which were incompletely closed but symptoms were improved, 3) non responder which were conducted surgical ligation because did not respond. RESULTS: Among the total 29 full-term infants treated with indomethacin, 13 (44.8%) were complete responder, 8 (27.6%) were partial responder, and 8 (27.6%) were non responder. There were no significant differences in birth weight, narrow diameter of PDA, and dose of indomethacin between three groups. However, the age at initiation of treatment using indomethacin of complete (4.8+/-4.5 days, P=0.03) and partial responder (6.3+/-2.0 days, P=0.04) were earlier than those of non responder (13.8+/-8.1 days). CONCLUSION: Indomethacin can expect an effective treatment of PDA in full-term infants prior to surgical ligation.

A Case of Esophago-mediatinal Fistula Due to Esophageal Tuberculosis / 결핵및호흡기질환

The esophagus is a rate site for rarely involved site of tuberculosis. The most common cause of esophageal tuberculosis is secondary involvement from adjacent tuberculous lymphadenitis. Esophago-nodal or esophagobronchial fistulas may be formed when tuberculous lymph nodes erode the adjacent esophageal or bronchial wall. We report a patient diagnosed with esophageal tuberculosis, which was complicated by an esophago-mediastinal fistula, by endoscopy, sputum acid fast bacilli (AFB) stain, chest computed tomography (CT), and an esophagogram. The patient was treated with antituberculous agents and chest CT and endoscopy showed that the fistula had closed completely.

Bronchoscopic Electrocautery with Electroprobe and Diathermic Snare in Patients with Malignant Airway Obstruction / 결핵및호흡기질환

BACKGROUND: Endobronchial tumors cause?life-threatening dyspnea and can lower the quality of life due to central airway obstruction.?In those cases with an intraluminal tumor, various bronchoscopic techniques are available for tumor debulking. The therapeutic effect of bronchoscopic electrocautery for palliation in patients with a symptomatic tumor obstruction was studied. METHOD: Nineteen patients with bronchogenic carcinomas (n=15) and metastatic tumors affecting the bronchi (n=4), between March 2002 and March 2005, were enrolled in this study. Electrocautery was performed under local anesthesia using an electroprobe and diathermic snare. Using flexible bronchoscopy, a follow-up bronchoscopic examination was performed 3-4 days later. Symptom improvement was evaluated by FEV1, FVC and dyspnea score (Modified Borg Category Scale (0~10)), both before and after the electrocautery. RESULTS: The success rate of electrocautery on the follow up examination was 84%. Patients with endoluminal airway lesions had a mean overall decrease in the size of the obstruction to 47.8+/-15.7%. The mean Improvement in the dyspnea score immediately after the endobronchial tumor debulking was 2.78+/-1.42.The average improvements in the FEV1 and FVC after electrocautery were 0.32+/-0.19L and 0.5+/-0.22L, respectively. There were 2 cases of complications related with electrocautery (one each of pneumothorax and pneumonia). CONCLUSION: Electrocautery using an electroprobe and diathermic snare was an effective and safe palliative treatment for a symptomatic endoluminal airway obstruction in lung cancer.