A Case of Autosomal Recessive Pseudohypoaldosteronism Type 1 with a Novel Mutation in the SCNN1A Gene

Pseudohypoaldosteronism (PHA) is a condition characterized by renal salt wasting, hyperkalemia, and metabolic acidosis due to renal tubular resistance to aldosterone. Systemic PHA1 is a more severe condition caused by defective transepithelial sodium transport due to mutations in the genes encoding the alpha (SCNN1A), beta (SCNN1B), or gamma (SCNN1G) subunits of the epithelial sodium channel at the collecting duct, and involves the sweat glands, salivary glands, colon, and lung. Although systemic PHA1 is a rare disease, we believe that genetic studies should be performed in patients with normal renal function but with high plasma renin and aldosterone levels, without a history of potassium-sparing diuretic use or obstructive uropathy. In the present report, we describe a case of autosomal recessive PHA1 that was genetically diagnosed in a newborn after severe hyperkalemia was noted.

A Case of Autosomal Recessive Pseudohypoaldosteronism Type 1 with a Novel Mutation in the SCNN1A Gene

Pseudohypoaldosteronism (PHA) is a condition characterized by renal salt wasting, hyperkalemia, and metabolic acidosis due to renal tubular resistance to aldosterone. Systemic PHA1 is a more severe condition caused by defective transepithelial sodium transport due to mutations in the genes encoding the alpha (SCNN1A), beta (SCNN1B), or gamma (SCNN1G) subunits of the epithelial sodium channel at the collecting duct, and involves the sweat glands, salivary glands, colon, and lung. Although systemic PHA1 is a rare disease, we believe that genetic studies should be performed in patients with normal renal function but with high plasma renin and aldosterone levels, without a history of potassium-sparing diuretic use or obstructive uropathy. In the present report, we describe a case of autosomal recessive PHA1 that was genetically diagnosed in a newborn after severe hyperkalemia was noted.

Pediatric Urolithiasis: Our 22-year Experience at a Single Center

PURPOSE: Pediatric urolithiasis is uncommon in children but is a cause of significant morbidity and damage to the kidney. Although much information on adult urolithiasis is available in the literature, large studies on the pediatric population are still scarce. In this report, we review our experience with pediatric urolithiasis over 22 years at a tertiary referral center. METHOD: We retrospectively reviewed the records of children with newly diagnosed urolithiasis between January 1991 and May 2013. We assessed the age, sex, family history, initial symptoms, location of stones, underlying cause, stone analysis, treatment, and recurrence among the patients. RESULTS: In total, 137 patients (96 male, 41 female) were assessed. The age range was 0-17 years (mean age, 6.0 years). Forty-three (31%) children were aged <1 year, and 37% (16/43) had a history of intensive care unit (ICU) admission. Thirteen patients (9.5%) had a family history of stones. The most common symptoms at presentation among the patients were gross hematuria (56/137, 41%) and flank or abdominal pain (46/137, 34%). The stones were located in the kidney (85/137, 62%), ureter (29/137, 21%), bladder (2/137, 1.4%), and multiple locations (20/137, 15 %). Congenital abnormalities of the genitourinary (G-U) tract, with or without metabolic abnormality, or urinary tract infection (UTI) was detected in 26 children (19%). Ninety-one patients (66%) underwent metabolic examination, and 38% of these patients exhibited an abnormality. UTI, with or without abnormalities of the G-U tract, or metabolic abnormality was detected in 26 children (19%). Of the 35 stones analyzed, the majority were calcium stones (20/35, 57%), followed by infected stones (5/35, 14%), uric acid stones (4/35, 11%), carbonate apatite stones (3/35, 7%), cystine stones (2/35, 6%), and phosphate stones (1/35, 3%). Five patients (4%) required open procedures, with or without non-open procedures, whereas 77 patients (56%) were managed conservatively; the remaining 55 patients (40%) received some other form of intervention. Eighteen patients (13%) had stone recurrence during the follow-up period. CONCLUSIONS: Pediatric urolithiasis is commonly associated with abnormalities of the G-U tract and/or metabolic disorders and/or UTI. Half of the patients will pass their stones spontaneously, and all the techniques of minimally invasive surgery are applicable in the treatment of children with stones. As the recurrence rates are high among this population, long-term follow-up is recommended and the complete clearance of stones is important.

Violence Episodes and Responses of Emergency Room Nurses / 기본간호학회지

PURPOSE: The purpose of study was to identify violence episodes by patients and/or their guardians and responses from emergency room nurses. METHOD: A convenient sample of 172 emergency nurses was selected from general hospitals with more than 200 beds. A survey design was used and data were collected from October 2 to October 11, 2006. using self-report questionnaires which were developed by the authors. Descriptive statistics, with the SPSS PC program were used to analyze the data. RESULTS: The majority of nurses (97.1%) had experienced violence by patients or their guardians in the previous month. Violence offenders who were drunk comprised 68.6% of total offenders. Causes of violence were delays in examination and treatment (59.9%). The major coping behavior in dealing with violence episodes was ignoring (40.1%). Responses to violence experienced by emergency nurses were rated as 2.39. Response to violence according to general characteristics of the nurses showed no statistically significant differences. CONCLUSION: Considering the high prevalence of violence experienced by emergency nurses, hospitals must develop and manage preventive education programs and policy.