Renal transplantation in a patient with Bartter syndrome and glomerulosclerosis / 소아과

Bartter syndrome (BS) is a clinically and genetically heterogeneous inherited renal tube 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.

A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene / 소아과

Pseudohypoaldosteronism type 1 (PHA1) is a rare form of mineralocorticoid resistance characterized in newborns by salt wasting with dehydration, hyperkalemia and failure to thrive. This disease is heterogeneous in etiology and includes autosomal dominant PHA1 owing to mutations of the NR3C2 gene encoding the mineralocorticoid receptor, autosomal recessive PHA1 due to mutations of the epithelial sodium channel (ENaC) gene, and secondary PHA1 associated with urinary tract diseases. Amongst these diseases, autosomal dominant PHA1 shows has manifestations restricted to renal tubules including a mild salt loss during infancy and that shows a gradual improvement with advancing age. Here, we report a neonatal case of PHA1 with a NR3C2 gene mutation (a heterozygous c.2146_2147insG in exon 5), in which the patient showed failure to thrive, hyponatremia, hyperkalemia, and elevated plasma renin and aldosterone levels. This is the first case of pseudohypoaldosteronism type 1 confirmed by genetic analysis in Korea.

Clinical Characteristics and Associated Anomalies in Children with Solitary Kidney

PURPOSE: The clinical characteristics and associated anomalies in children with solitary kidney (SK) were analyzed retrospectively. METHODS: Total 38 children diagnosed to have SK at our hospital between December 1989 and December 2009 were recruited, and the clinical records including imaging studies were retrospectively reviewed. SK was defined as unilateral renal agenesis by imaging studies only, and patients with regression of unilateral dysplastic kidney were excluded. RESULTS: Among total 38 patients, 12 were male. The median age at the diagnosis of SK was 6.5 months (at birth-13 years). SK was detected by prenatal ultrasonography in 14 patients and during work-up for renal or urinary tract diseases in 13 (including urinary tract infection in 7). In 10 patients, SK was detected incidentally. Anomalies in the SK were noted in 17 patients including vesicoureteral reflux in 11. Other anomalies in the genitourinary tract were present in 16 patients, and multi-organ-involving syndromes or chromosomal anomalies were detected in 9. The mean duration of follow-up was 9 years (9 months-20 years). Two patients developed chronic renal failure during follow-up, and the median serum creatinine concentration of the remaining 36 at their last follow-up was 0.6 mg/dL. CONCLUSION: SK may be isolated and clinically asymptomatic; it is frequently accompanied by other anomalies in genitourinary tract and other organs, some of which can induce progressive renal dysfunction. Early recognition of associated anomalies with SK and regular follow-up is recommended to reduce long-term risk.

Peritonitis in Children Undergoing Peritoneal Dialysis: 10 Years' Experience in a Single Center

PURPOSE: The organisms causing peritonitis and their antibiotic sensitivities vary in different regions and centers, and these data are necessary to establish regional treatment guidelines. The aim of this study was to investigate the changes in incidence and characteristics of the organisms that cause peritonitis in children undergoing peritoneal dialysis (PD) during recent 10 years. METHODS: We retrospectively collected and analyzed the data from medical records of 110 children on PD during the period from 2000 to 2010. RESULTS: One hundred and forty episodes of peritonitis have occurred in 57 patients. The overall incidence of peritonitis was 0.43 episodes/patient.year, and similar incidence have been maintained since 2003. Sixty percent of the patients experienced peritonitis within 1 year of PD, and all patients commencing PD in infancy experienced peritonitis. Gram positive (G (+)), gram negative (G (-)) organisms and fungi were cultured in 58%, 38%, and 4.1% respectively and cultures were negative in 13.6%. Staphylococcus was the most common G (+) organism, and Pseudomonas and Acinetobacter were 2 most frequent G (-) organisms isolated. Fifty-six percent of the G (+) organisms were sensitive to first generation cephalosporin and 91% of G (-) pathogens were sensitive to ceftazidime. Methicillin-resistance rate was not higher in children less than 2 years of age than in those more than 2 years. CONCLUSION: An additional breakthrough has to be made to further reduce the incidence of peritonitis. Treatment guideline customized for peritonitis in Korean children on PD need to be established through a nationwide co-work.

Clinical Significance of Cone-shaped Epiphysis and Brachymesophalangia of the Fifth Middle Phalanx in Korean Children with Normal Short Stature / 대한소아내분비학회지

PURPOSE:The cone-shaped epiphyses mid-5 (CSE-5) and brachymesophalagia-5 (BMP-5) are common osseous anomalies. Those are thought to be normal variants. We evaluated the frequency of CSE-5 and BMP-5 and the influence of them on adult height in Korean children with normal short stature. METHODS:We retrospectively reviewed medical records of 322 normal short stature children. Lengths of the fourth (MP-4) and fifth middle phalanx (MP-5) and widths of MP-5 of all children were measured. Two indicies for BMP-5 were used. Index 1 was based upon the ratio of the width to the length of the MP-5. Index 2 was based upon the ratio of the lengths of MP-5 to MP-4. CSE-5 was assessed by visual inspection only. We assessed several clinical parameters as follows; advanced skeletal maturation, z-scores of height, target height (THz) and predicted adult height (PAHz) according to CSE-5 and/or BMP-5. Results:Of the 322 children, 23.6% had BMP-5 (male 19.5%, female 27.4%), 23.6% had CSE-5 (male 13.0%, female 33.3%). The children with CSE-5 and/or BMP-5 were more advanced skeletal maturation than normal fifth finger (0.07+/-1.09 yrs vs -0.23+/-1.34 yrs, P=0.049), lower PAHz (-1.13+/-1.09 vs -0.71+/-1.28, P=0.008), lower PAHz- THz (-0.53+/-1.07 vs -0.14+/-1.30, P=0.013). In male subjects, the PAHz had weak correlation with index 1 (r=-0.26, P=0.001) and index 2 (r=0.27, P=0.001). CONCLUSION:This study suggests that BMP-5 and CSE-5 in Korean children with short stature are one contributable factor for adult height.

A Case of Sjogren's Syndrome with Hyperthyroidism / 대한소아내분비학회지

Sjogren syndrome is a chronic, slowly progressive, autoimmune disease in which the exocrine glands are damaged by lymphocytic infiltration, resulting in xerostomia and xerophthalmia. Sjogren syndrome may occur in 2 forms: primary Sjogren syndrome, when the clinical manifestations of the syndrome are seen alone, and secondary Sjogren syndrome, when associated with another autoimmune disease, such as rheumatoid arthritis, systemic lupus erythromatosus, or scleroderma. Approximately one third of patients present with extraglandular manifestations: arthritis, Raynaud phenomenon, lymphadenopathy, lung involvement, vasculitis and peripheral nervous system involvement. About 10-50% of patients with Sjogren syndrome had evidence of thyroid disease, mainly hypothyroidism. Several inflammatory thyroid diseases are also considered to be autoimmune in origin. In this respect, the histologic picture of primary Sjogren syndrome exocrine glands and autoimmune thyroid glands show great similarities. Here, we report a new case of Sjogren syndrome accompanying with hyperthyroidism which affected a 10-year-old girl.