Gitelman syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemic metabolic alkalosis, and it is distinguished from Batter syndrome by hypomagnesemia and hypocalciuria. This disorder is caused by mutation in SLC12A3 gene which encodes thiazide-sensitive Na(+)-Cl(-)cotransporter (NCCT) which is expressed in the apical membrane of cells, lining distal convoluted tubule. A 8-year old boy who presented with Rolandic epilepsy, and horseshoe kidney accidentally showed clinical features of metabolic alkalosis, hypokalemia, hypocalciuria without hypomagnesemia. So we identified a heterozygote mutation and an abnormal splicing in the SLC12A3 gene, encoding NCCT. The mutation was detected in the exon 15 and 22 of SLC12A3 gene.
Alkalosis ; Epilepsy, Rolandic ; Exons ; Gitelman Syndrome ; Heterozygote ; Hypokalemia ; Kidney ; Magnesium ; Membranes

Benign lymphoepithelial cysts are rare, and are associated with swelling of the salivary glands (usually the parotid gland). The cytopathological features include lymphoid hyperplasia with an epithelial component, exhibiting cystic and proliferative changes. Development of a benign lymphoepithelial cyst commonly precedes acquisition of acquired immunodeficiency syndrome, but may also be the initial clinical manifestation of human immunodeficiency virus (HIV) infection. A 43 year-old male presented with a slowly growing multilocular cystic mass in his right cheek. Computed tomography of the neck revealed a well-circumscribed cystic lesion in the bilateral parotid glands. A provisional diagnosis of a benign lymphoepithelial cyst associated with HIV infection was made, and Western blotting confirmed the HIV infection. Three months after initiation of antiretroviral therapy, the parotid swelling was completely resolved. We report this case to suggest that clinicians should consider the possibility of HIV infection when patients present with benign lymphoepithelial cysts of the parotid gland.
Acquired Immunodeficiency Syndrome ; Blotting, Western ; Cheek ; Diagnosis ; HIV Infections ; HIV* ; Humans ; Hyperplasia ; Male ; Neck ; Parotid Gland* ; Salivary Glands

BACKGROUND: A Middle East Respiratory Syndrome coronavirus (MERS-CoV) outbreak in South Korea in 2015 started by a single imported case and was amplified by intra- and inter-hospital transmission. We describe two hospital outbreaks of MERS-CoV infection in Daejeon caused by a single patient who was infected by the first Korean case of MERS. MATERIALS AND METHODS: Demographic and clinical information involving MERS cases in the Daejeon cluster were retrospectively collected and potential contacts and exposures were assessed. The incubation periods and serial intervals were estimated. Viral RNAs were extracted from respiratory tract samples obtained from the index case, four secondary cases and one tertiary case from each hospital. The partial S2 domain of the MERS-CoV spike was sequenced. RESULTS: In Daejeon, a MERS patient (the index case) was hospitalized at Hospital A in the first week of illness and was transferred to Hospital B because of pneumonia progression in the second week of illness, where he received a bronchoscopic examination and nebulizer therapy. A total of 23 secondary cases (10 in Hospital A and 13 in Hospital B) were detected among patients and caregivers who stayed on the same ward with the index case. There were no secondary cases among healthcare workers. Among close hospital contacts, the secondary attack rate was 15.8% (12/76) in Hospital A and 14.3% (10/70) in Hospital B. However, considering the exposure duration, the incidence rate was higher in Hospital B (7.7/100 exposure-days) than Hospital A (3.4/100 exposure-days). In Hospital B, the median incubation period was shorter (4.6 days vs. 10.8 days), the median time to pneumonia development was faster (3 days vs. 6 days) and mortality was higher (70% vs. 30.8%) than in Hospital A. MERS-CoV isolates from 11 cases formed a single monophyletic clade, with the closest similarity to strains from Riyadh. CONCLUSION: Exposure to the MERS case in the late stage (2nd week) of diseases appeared to increase the risk of transmission and was associated with shorter incubation periods and rapid disease progression among those infected. Early detection and isolation of cases is critical in preventing the spread of MERS in the hospital and decreasing the disease severity among those infected.
Caregivers ; Coronavirus Infections* ; Delivery of Health Care ; Disease Outbreaks* ; Disease Progression ; Humans ; Incidence ; Korea* ; Middle East Respiratory Syndrome Coronavirus ; Middle East* ; Mortality ; Nebulizers and Vaporizers ; Pneumonia ; Respiratory System ; Retrospective Studies ; RNA, Viral