• Clinical and Experimental Pediatrics
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• 제56권8호
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• pp.323-326
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• 2013

Quality of life in addition to various medical problems in children with end-stage renal disease (ESRD) should be objectively assessed to accomplish normal growth and development during childhood. However, unfortunately, studies of quality of life (QoL) in children with ESRD have been not popular yet and there are only fewer suitable assessment tools compared with adults. Recently, disease-specific modules to evaluate QoL in children with chronic disease such as ESRD have been developed. This review was made to introduce these QoL instruments for children and help the clinical application of them.

• Clinical and Experimental Pediatrics
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• 제52권10호
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• pp.1069-1074
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• 2009

Peritoneal dialysis is a preferred modality of replacement therapy in children and adolescents with end-stage renal disease waiting for kidney transplantation. Recent development of pediatric swan-neck catheters with cuffs, novel dialysis solutions, and cyclers for automated peritoneal dialysis enabled more flexible prescriptions of dialysis with less complication, and improved patients' activities as well as the dialysis adequacy. Principles and practical issues of chronic peritoneal dialysis in children and adolescents are reviewed and utility of a web-based Korean Pediatric CRF Registry is explained.

• Clinical and Experimental Pediatrics
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• 제52권10호
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• pp.1075-1081
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• 2009

Renal transplantation is the treatment of choice for children with end-stage renal disease. The outcome of pediatric kidney transplantation has improved dramatically in recent years, with lower acute rejection rates, superior graft survival, and low mortality. These improvements have allowed increased attention to other aspects of care for long-term survivors. Taking this into consideration, this review article will focus on the key issues related to pediatric kidney transplantation such as growth, neurocognitive function, nonadherence, and posttransplantation infectious complications, including lymphoproliferative disease, to broaden the understanding of pediatricians who provide pre-and postoperative care to children with end-stage renal disease.

• Childhood Kidney Diseases
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• 제24권2호
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• pp.63-68
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• 2020

Despite the many advantages of peritoneal dialysis (PD) in children with end-stage renal disease, there exist redoubtable complications of PD that should be overcome. To prevent and manage these complications, a multidisciplinary team should provide support highly tailored for each child and family, based on the standardized practice guidelines for the management of pediatric PD. In this review, we summarize the clinical manifestations and management of several complications of PD.

• Clinical and Experimental Pediatrics
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• 제54권1호
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• pp.36-39
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• 2011

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

• 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.

• Clinical and Experimental Pediatrics
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• 제61권7호
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• pp.205-209
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• 2018

Kidney transplantation (KT) is the gold standard for renal replacement therapy in pediatric patients with end-stage renal disease. Recently, it has been observed that the outcome of pediatric KT is nearly identical to that in adults owing to the development and application of a variety of immunosuppressants and newer surgical techniques. However, owing to several differences in characteristics between children and adults, pediatric KT requires that additional information be learned and is associated with added concerns. These differences include post-KT complications, donor-recipient size mismatch, problems related to growth, and nonadherence to therapy, among others. This review was aimed at elucidating the clinical characteristics of pediatric KT that differ from those observed in adults.

• Journal of Trauma and Injury
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• 제32권2호
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• pp.111-114
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• 2019

Minimal change disease (MCD) in children has a favorable long-term prognosis, and development of end-stage renal disease is very uncommon; less than 5%. In the first case of its kind, we report a 21-year-old female with a history of MCD at the age of 6, who had late relapse subsequent to a motorcycle accident resulting in a de-gloving skin injury and intensive care unit admission. MCD was confirmed by normal light microscopy, podocyte effacement on electron microscopy and absence of any deposits on immunofluorescence 3 weeks after the incident due to critical illness. It is postulated that the skin injury is what caused the relapse of MCD.

• Childhood Kidney Diseases
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• 제13권2호
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• pp.242-247
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• 2009

소아청소년기의 당뇨병은 대부분 제1형 당뇨병으로, 이 때 발생하는 혈관합병증으로서 당뇨병성 신병증은 소아에서 흔하지 않지만 신부전까지 초래할 수 있는 심각한 합병증이다. 혈당조절이 불량하고 사춘기나 그 이후에 당뇨병이 발생하는 경우에 혈관합병증의 발생이 증가하므로 소아청소년기의 당뇨병이 청소년기에 당뇨병성 신병증으로 발현하는 경우는 드물고, 더욱이 말기 신질환으로 진행하는 경우는 매우 드물다. 저자들은 혈당 조절이 불량했던 제 1형 당뇨병 소아 환자에서 혈뇨와 단백뇨가 관찰되어 조직 검사를 통해 사춘기 전에 발생한 당뇨병성 신병증을 확인하고 사춘기에 말기 신질환으로 진행한 1례를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• Childhood Kidney Diseases
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• 제23권2호
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• pp.59-66
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• 2019

Background: Primary hyperoxaluria (PH), a rare inborn error of glyoxylate meta bolism causing overproduction of oxalate, is classified into three genetic subgroups: type 1-3 (PH1-PH3) caused by AGXT, GRHPR, and HOGA1 gene mutations, respectively. We performed a retrospective case series study of Korean pediatric patients with PH. Methods: In total, 11 unrelated pediatric patients were recruited and their phenotypes and genotypes were analyzed by a retrospective review of their medical records. Results: Mutational analyses revealed biallelic AGXT mutations (PH1) in nine patients and a single heterozygous GRHPR and HOGA1 mutation in one patient each. The c.33dupC was the most common AGXT mutation with an allelic frequency of 44%. The median age of onset was 3 months (range, 2 months-3 years), and eight patients with PH1 presented with end stage renal disease (ESRD). Patients with two truncating mutations showed an earlier age of onset and more frequent retinal involvement than patients with one truncating mutation. Among eight PH1 patients presenting with ESRD, five patients were treated with intensive dialysis followed by liver transplantation (n=5) with/without subsequent kidney transplantation (n=3). Conclusion: Most patients presented with severe infantile forms of PH. Patients with two truncating mutations displayed more severe phenotypes than those of patients with one truncating mutation. Sequential liver and kidney transplantation was adopted for PH1 patients presenting with ESRD. A larger nation-wide multicenter study is needed to confirm the genotype-phenotype correlations and outcomes of organ transplantation.