Hyponatremia and hyperkalemia in infancy can be attributed to various causes, originating from a variety of renal and genetic disorders. Pseudohypoaldosteronism type 1 (PHA1) is one of these disorders, causing mineralocorticoid resistance that results in urinary salt wasting, failure to thrive, metabolic acidosis, and dehydration. PHA1 is heterogeneous in etiology. Inactivating mutations in the NR3C2 gene (4q31.1), which encodes the mineralocorticoid receptor, causes a less severe autosomal dominant form that is restricted to the kidney, while mutations in the amiloride-sensitive epithelial sodium channel gene (alpha subunit=SCNN1A, 12p13; beta subunit=SCNN1b, 16p12.2-p12.1; gamma subunit=SCNN1G, 16p12) causes a more severe autosomal recessive form, which has systemic effects. Here we report a neonatal case of kidney restricted PHA1 (renal type of PHA1) who first showed laboratory abnormalities before obvious PHA1 manifestations, with two functional polymorphisms in the NR3C2 gene. This is the second genetically confirmed case in Korea and the first to show functional polymorphisms that have previously been reported in the literature.

Background and Purpose:Benign childhood epilepsy with centrotemporal spikes (BCECTS) is the most common pediatric focal epilepsy syndrome and typically has positive clinical outcomes. However, a few patients experience recurrent seizures, and therefore, require treatment with antiepileptic drugs (AEDs). This study aimed to identify risk factors associated with poor response to initial AED therapy in BCECTS patients.Methods:We retrospectively reviewed the files of 57 patients who were diagnosed with BCECTS between January 2008 and September 2013. Patients not being treated with AEDs have been excluded. We placed the patients into two groups: (1) patients using 1 AED, and (2) patients using 2 AEDs. Clinical characteristics were then collected from the medical records.Results:Of the 57 patients, 41 (72%) were successfully treated with 1 AED, and 16 (28%) required 2 AEDs to control seizures. Multiple logistic regression analysis indicated that seizure onset prior to age 5 (odds ratio [OR]: 5.65, 95% confidence interval [CI]: 1.41–22.68) and history of febrile seizures (OR: 4.97, 95% CI: 1.06–23.36) were independent risk factors for poor response to initial therapy (p<0.05). Response to AEDs was not associated with the presence of focal slowing or generalized epileptiform discharges on EEG, abnormalities on MRI of the brain, frequency of afebrile seizures before drug therapy, or family history of febrile seizures or epilepsy.Conclusions:This study revealed that 28% of patients with BCECTS experienced poor responses to initial AED therapy. Factors predicting poor response to the initial AED included onset of seizures prior to age 5 and history of febrile seizures.

Hypereosinophilic syndrome (HES) is characterized by the presense of hypereosinophilia with evidence of target organ damage. We report a patient diagnosed with eosinophilic cystitis and HES. A 7 year old boy had hematuria, dysuria, and increased urinary frequency for 1 day. Laboratory examinations revealed hypereosinophilia (eosinophils, 2,058/µL), hematuria, and proteinuria. Abdominal sonography revealed diffuse and severe wall thickening of the bladder. The patient was treated initially with antibiotics. However, his symptoms did not improve after 7 days. A computed tomography scan demonstrated severe wall thickening of the bladder and the hypereosinophilia persisted (eosinophils, 2,985/µL). The patient complained of chest discomfort, dyspnea, epigastric pain, and vomiting on hospital day 10. Parasitic, allergic, malignancy, rheumatologic, and immune workups revealed no abnormal findings. Chest X-rays, electrocardiography, and a pulmonary function test were normal; however, the hypereosinophilia was aggravated (eosinophils, 3,934/µL). Oral deflazacort was administered. A cystoscopic biopsy showed chronic inflammation with eosinophilic infiltration. The patient's respiratory, gastrointestinal, and urinary symptoms improved after 6 days of steroids, and he was discharged. The eosinophil count decreased dramatically (182/µL). The hypereosinophilia waxed and waned for 7 months, and the oral steroids were tapered and stopped. This case describes a patient diagnosed with eosinophilic cystitis and HES.