• Journal of Genetic Medicine
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• 제11권2호
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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.

• 대한치과마취과학회지
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• 제3권2호
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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.

• 정신신체의학
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• 제10권1호
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• pp.55-60
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• 2002

중심성 뇌교 수초용해 (CPM) 및 뇌교의 수초용해(EPM) 은 대사 이상을 수반하는 여러 질환에서 뇌 세포 내외의 삼투질농도의 급속한 변화와 관련하여 발생하는 신경학적 질환이다. 저자들은 당뇨병성 신중에 의한 만성 신부전으로 신장이식을 받은 43세 남자 환자에서 발현한 CPM과 EPM 증례를 보고하였다. 환자는 망상, 연상이완, 환각, 부적절한 정동, 공격성, 기억장애 등을 수반한 정산병적 증상과 언어실조를 특징적으로 보인 경우로서, CPM과 EPM에서 비교적 드물게 발생하는 정신증상, 특히 정신병적 증상을 보인 증례이기에, 정선과적으로 중요한 임상적 의의를 가진다고 판단하여 문헌고찰과 함께 보고하는 바이다.

• Childhood Kidney Diseases
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• 제10권2호
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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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• 제9권1호
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• pp.102-107
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• 2005

저자들은 신성 골이양증을 내과적으로 치료하였으나 호전되지 않아 골격계 변형을 초래하여수술적 치료를 시행한 1례를 경험하였기에 보고하는 바이다.

• Journal of Nutrition and Health
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• 제34권4호
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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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• 제11권1호
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• pp.41-50
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• 2007

목적 : 영유아 만성 신부전 환자의 투석은 어른에 비해 여러 가지 면에서 어려움이 있다. 본 연구에서는 2세 미만 영유아에서 만성투석을 시행한 10례에 대한 경험을 고찰하여 보다 나은 투석 치료의 방향을 제시하고자 하였다. 방법 : 1999년 3월부터 2007년 2월까지 삼성서울병원에서 3개월 이상 만성 투석을 시행한 2세 미만의 만성 신부전 환아 10례의 의무기록을 후향적으로 조사하였다. 결과 : 대상 환아의 만성 신부전의 원 질환은 이형성신이 5례로 가장 많았다. 10명의 환아 중 남아는 6명, 여아는 4명이었다. 투석 시작 시 연령의 중간값은 3개월(22일-20개월)이었고 투석 시작 시 체중은 3.75 kg(2.2-10.3 kg)이었다. 투석시작 시 혈청 크레아티닌은 4.3 mg/dL(1.4-11.4 mg/dL)이었다. 투석기간은 29.5개월(3-62개월)이었다. 10명의 환아 중 2명은 혈액투석만 시행하였고, 4명은 복막투석만 시행하였다. 4명은 혈액투석과 복막투석을 모두 시행했다. 10명 중 9명은 적혈구 생성인자(Erythropoietin)를 투여 받았으며 고혈압 조절을 위해 항고혈압제를 복용하였다. 최근 추적관찰에서 1례는 신장 이식을 받았고, 2례는 패혈증으로 사망했으며, 5례는 복막투석 중이고, 2례는 추적관찰 되지 않았다. 투석의 합병증으로 감염이 가장 흔했고, 혈액투석 시 도관 확보 및 유지가 중요했다. 투석 시작 시와 비교해 투석 5개월 후 체중과 신장의 mean SDS 는 악화 되었으나 투석 1년 후에는 호전되었고 복막투석이 혈액투석보다 성장 면에서 유리한 경향을 보였다. 결론 : 2세 미만 영유아에서 만성 투석을 하는 경우 감염을 예방하고 도관을 잘 유지해야 한다. 적절한 영양공급을 통해 성장을 보완하고 보존적 치료를 병행하면 영유아에서 비교적 안전하게 투석치료를 할 수 있고 향후 신 이식이 가능하도록 생존율을 높이고 삶을 질을 호전시킬 수 있을 것으로 기대된다.

• Childhood Kidney Diseases
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• 제13권2호
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• pp.256-260
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• 2009

Russell-Silver 증후군은 자궁내 성장 지연, 특징적인 얼굴 기형, 저신장을 특징으로 하는 질환이다. Russell-Silver 증후군에서 동반되는 신질환은 말굽 신장, 신세뇨관 산증, 물콩팥증, 요관 깔때기막힘, 방광 요관 역류 등이 있다. 저자들은 Russell-Silver 증후군 환자에서 말기 신부전이 발생한 예를 경험하였으며 문헌 고찰에서 유사한 증례를 찾을 수 없었기에 보고하는 바이다.

• Childhood Kidney Diseases
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• 제20권2호
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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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• 제7권2호
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• pp.223-228
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• 2003

Oligomeganephronia는 선천적인 신형성 부전으로 신원의 수가 감소되고 보상성으로 사구체가 비대해진 질환으로 지금까지 전 세계적으로 약 60례만이 보고될 정도로 매우 드문 질환이다. 저자들은 학교선별뇨검사상 현미경적 혈뇨를 보였던 환아에서 신생검을 통하여 oligomeganephronia를 조기에 진단하고, 4년간 신부전증 및 성장부전의 진행 소견과 함께 사구체 경화증의 발생으로 사구체 용적이 감소하는 소견을 관찰할 수 있었기에, 이를 문헌 고찰과 함께 보고하는 바이다.