• Journal of Genetic Medicine
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• v.11 no.2
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• pp.74-78
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• 2014

Sotos syndrome (SS, OMIM 117550) is characterized by prenatal and postnatal overgrowth with multiple congenital anomalies. However, there have been few cases of growth retardation caused by renal failure from infancy. We report a case of dysplasia of the bilateral kidneys with renal failure and poor postnatal growth. A 2-month-old boy visited the emergency room owing to poor oral intake and abdominal distension. He was born at the gestational age of 38 weeks with a birth weight of 4,180 g. After birth, he had feeding difficulty and abdominal distension. Upon physical examination, his height and weight were in less than the 3rd percentile, while his head circumference was in the 50th percentile on the growth curve. He also showed a broad and protruding forehead and high hairline. Blood laboratory tests showed severe azotemia; emergent hemodialysis was needed. Abdominal ultrasonography revealed bilateral renal dysplasia with multiple cysts and diffuse bladder wall thickening. A posterior urethral valve was suggested based on vesicoureterography and abdominal magnetic resonance findings. Results of a colon study to rule out congenital megacolon did not reveal any specific findings. The conventional karyotype of the patient was 46, XY. Array comparative genomic hybridization study revealed a chromosome 5q35 microdeletion including the NSD1 gene, based on which SS was diagnosed. We describe a case of SS presenting with end stage renal disease due to posterior urethral valve. The typical somatic overgrowth of SS in the postnatal period was not observed due to chronic renal failure that started in the neonatal period.

• Journal of The Korean Dental Society of Anesthesiology
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• v.3 no.2 s.5
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• pp.98-102
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• 2003

Patients in end-stage renal disease (ESRD) and chronic renal failure present a number of challenges to the anesthesiologist. They may be chronically iii and debilitated and have the potential for multiorgan dysfunction. A 65-year-old male patient with ESRD was scheduled for oral cancer surgery under general anesthesia. He was in regular hemodialysis three times a week and secondary hypertension with left ventricular hypertrophy was accompanied. He also had chronic metabolic acidosis and hyperkalemia. The day after hemodialysis, general anesthesia was carried out. Uneventful anesthetic induction using thiopental and vecuronium and nasotracheal intubation were carried out. General anesthesia was maintained with isoflurane for 9 hours. During the anesthesia, he did not have any problem but persistently increasing serum potassium level. After anesthetic emergence, he was transferred to intensive care unit for mechanical ventilation. So we report this successful case of anesthetic management in a patient with ESRD for oral cancer surgery, which massive bleeding and long anesthetic time were inevitable in, from the preoperative preparation to anesthetic emergence.

• Korean Journal of Psychosomatic Medicine
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• v.10 no.1
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• pp.55-60
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• 2002

Central pontine myelinolysis(CPM) and Extrapontine myelinolysis(EPM) are uncommon neurologic disorders associated with osmotic inequality between the extracellular fluid compartment and intracellular fluid compartment in the brain. Myelinolysis can occur in hyponatremia and after rapid correction of hyponatremia. It may be caused by various metabolic disturbances such as chronic alcoholism, malnourishment, cancer, chronic renal failure and organ transplantation. The authors reported a 43-year-old male patient who have received a kidney transplantation because of chronic renal failure due to diabetic nephropathy. The patient manifested psychotic symptoms such as delusion, loosened association, hallucination, inappropriate affect and aggressiveness as a sequele of CPM and EPM. He also showed neurocognitive impairment such as disorientation, memory impairment, decresed intelligence and aphasia. These manifestations are rare in CPM and EPM. We discuss the clinical features, diagnosis, course and management of the patient which may be clinically significant in the neuropsychiatric aspect especially at the consultation-liaison field.

• Childhood Kidney Diseases
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• v.10 no.2
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• pp.219-227
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• 2006

Purpose : We aim to identify the clinical and demographic characteristics in children who underwent renal transplantation(RTx) and to evaluate the influence on growth of RTx in children. Methods : We reviewed 17 medical records of chronic renal failure patients who underwent RTx from April 1992 and June 2004 at Busan Paik Hospital. Age and sex distribution, cause of disease, donor analysis, patient and graft survival rate, and the status of growth after RTx were analysed by retrospective study. Results : Eighteen RTx were performed in 17 patients(8 boys, 9 girls). The mean age at the time of RTx was $15.8{\pm}3.5$ years and the mean duration of dialysis therapy before RTx was $22.4{\pm}18.0$ months. The 1 year and 5 year patient survival rate were each 100%, and the 1 year and 5 year graft survival rate were 88%, 36% respectively. The most common cause of graft failure was chronic rejection. The mean final height of male patients was $162.8{\pm}10.0$ cm(143.0-172.5 cm) and of female patients was $154.5{\pm}12.1$ cm(135.8-160.0 cm). The mean height standard deviation score(Ht SDS) increased after RTx from -1.95 to -1.53 but the increment rate was not statistically significant. Similar changes were noted in individual patient analysis. Also there was no significant difference between the living-related donors and cadaveric donors. Conclusion : Our data shows that even successful RTx rarely results in full growth rehabilitation. To overcome retarded growth in children with chronic renal failure, appropriate combined management of metabolic and nutritional problems, correction of anemia, proper use of recombinant growth hormone therapy, early renal transplantation and shortening of the duration of dialysis would be necessary.

• Childhood Kidney Diseases
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• v.9 no.1
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• pp.102-107
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• 2005

With the advent of hemodialysis, the success of renal transplants in the 1960s and the wide use of continuous ambulatory peritoneal dialysis at the end of the 1970s, children with renal failure now enjoy an extended life span. As a result, several children experience renal osteodystrophy and growth retardation. Renal osteodystrophy is induced by phosphorus retention, hypocalcemia, low vitamin D levels and hyperparathyroidism. The pharmacologic interventions are used to prevent bone deformities and to normalize growth velocity. But surgical intervention is required sometimes whorl osteodystrophy is severe and poorly controlled. We report an eight-year-old boy with ctironic renal failure who developed severe bone deformities and needed osteotomy.

• Journal of Nutrition and Health
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• v.34 no.4
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• pp.359-366
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• 2001

Studies were carried out to explore the influence of dietary protein level on bone metabolism in uninephrectomized rat (experimental renal failure model) when dietary Ca and P contents were equal. Male rats were uninephrectomized or sham operated and fed 8%, 15% and 40% casein diets for 24 weeks. Ca and P contents of the all diet were 0.4% and 0.6% respectively. The results are summarized as follows. We did not found any significant difference in PTH and Ca level of the serum, Ca intake and Ca excretion among the experimental groups. There was significant positive correlation between the PTH and phosphate level. There was significant inverse correlation between serum Ca and creatinine level. The effect of the dietary protein level and renal mass loss on density and Ca contents of the bone were small and different according to the kinds of the bone. Low protein diet was associated with a significant enhancement of scapular density. Femur and vertebra density, however, were not influenced by dietary protein level and uninephrectomy. Light microscopic examination showed several calcified foci in the kidney in all experimental groups. Low protein diets have been used for a long time in the conservative management of chronic renal failure as they have a beneficial effect in preventing the appearance of symptoms. This study elucidated that part of beneficial effects of the low protein diet related to the suppression of the hyperphosphatemia. And these results, even though uninephrectomized rats fed high protein diet, the secondary hyperparathyroidism is supressed by the regulation of the P level. Therefore this study emphasized the need to pay more attention to the regulation of dietary P level as well as dietary protein content in chronic renal failure. (Korean J Nutrition 34(4): 359∼366, 2001)

• Childhood Kidney Diseases
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• v.11 no.1
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• pp.41-50
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• 2007

Purpose : Dialysis in children with chronic renal failure presents with many difficulies. The purpose of this study is to find an improved method in chronic dialysis in infants and children less than 2 years of age by analyzing the experience with 10 cases. Methods : A retrospective review of the medical records of 10 patients(6 boys and 4 girls) was conducted. The patients had chronic renal failure and underwent chronic dialysis at Samsung medical center from March 1999 to February 2007. Results : At Initiation of dialysis, the median age was 3 months old(22 days-20 months), the median body weight was 3.75 kg(2.2-10.3 kg), and the median serum creatinine level was 4.3 mg/dL(2.0-11.4 mg/dL). The median duration of dialysis was 29.5 months(3-62 months). Dysplastic kidney disease was the most common underlying renal disease. Two patients were treated with hemodialysis, 4 patients with peritoneal dialysis, and 4 patients eventually switched dialysis modality. Nine of the 10 patients took erythropoietin and anti-hypertensive drugs. At the end of the follow up period, 1 patient received kidney transplantation, 2 patients died due to sepsis, and 5 patients were treated with peritoneal dialysis. Two patients were lost to follow up. The most common complication of dialysis was infection. Achieving vascular access and maintaining proper catheter function were the most important factors in treating patients with hemodialysis. The growth status of patients was aggravated after 6 month of dialysis but improved after 1 year of dialysis. Patients showed better growth on peritoneal dialysis than hemodialysis. Conclusion : Chronic dialysis can be performed successfully in infants and children under 2 years of age. Vascular access was the main limitation of hemodialysis, and infection was the common problem in both hemodialysis and peritoneal dialysis. To improve the patients survival rate and quality of life, major efforts should be directed toward the prevention of infection and preservation of catheter function. (J Korean Soc Pediatr Nephrol 2007;11:41-50)

• Childhood Kidney Diseases
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• v.13 no.2
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• pp.256-260
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• 2009

The Russell-Silver syndrome (RSS) is a disease characterized by intrauterine growth retardation with preserved head circumference, facial dysmorphism and short stature. Reported renal and urinary manifestations of RSS include horseshoe kidney, renal tubular acidosis, hydronephrosis, ureteropelvic obstruction and vesicoureteral reflux. Here we report a case of end-stage renal disease associated with RSS, which, to the best of our knowledge, has not been reported yet.

• Childhood Kidney Diseases
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• v.20 no.2
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• pp.37-44
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• 2016

Although asymptomatic bacteriuria, cystitis, and acute pyelonephritis (APN) have been categorized as urinary tract infections (UTIs), the immunopathogenesis of each disease is different. APN shows an age predilection; the majority of children (over 70-80%) with APN are under 1-2 years of age, with a male predominance. After 1-2 years of age, female predominance has been reported. This finding suggests that the immature immune state of infancy may be associated with the pathogenesis of APN. Escherichia coli is the most common etiologic agent; other uropathogens associated with UTIs originate from the host and comprise normal flora that are continuously altered by environmental factors. Therefore, uropathogens may have characteristics different from those of extraneous bacterial pathogens. Although antibiotic-resistant uropathogens, including extended-spectrum beta-lactamase-producing strains, are increasing in Korea and worldwide, treatment failure is rare in immune-competent children. The immunopathogenesis of APN remains unknown. Intact bacteria may not be the causative substances in renal cell injury; rather, smaller substances produced during bacterial replication may be responsible for renal cell injury and scarring. Moreover, substances from host cells such as proinflammatory cytokines may be involved in renal cell injury. A dimercaptosuccinic acid scan is used to detect the site of bacterial replication in the renal parenchyma, and may be influenced by the size of the focus and the stage of APN. Traditional aggressive studies used to identify vesicoureteral reflux after the first episode of APN have been modified because of rare cases of chronic kidney disease in patients with recurrent UTI.

• Childhood Kidney Diseases
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• v.7 no.2
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• pp.223-228
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• 2003

Oligmeganephronia is congenital hypoplasia of kidney with renal pathology showing very small number of nephrons with compensatory hypertrophy of the remaining glomeruli. A 7-year-old girl was referred to our nephrology clinic due to hematuria detected on school screening urinalysis and diagnosed as chronic renal failure and oligomeganephronia on renal biopsy. We are reporting the clinical and histomorphometric changes for the four years follow-up with review of literatures.