• Childhood Kidney Diseases
• /
• 제19권1호
• /
• pp.23-30
• /
• 2015

NPHP is the most common monogenic cause of CKD in children or adolescents. Extra-renal symptoms often accompany, therefore examination of retina, hearing, and skeleton is necessary in patients with CKD with insidious onset. Genes involved in NPHP-RC are mostly related in primary cilia. While genetic diagnosis is necessary for definitive diagnosis, there is no curative treatment.

• Childhood Kidney Diseases
• /
• 제28권1호
• /
• pp.44-50
• /
• 2024

Systemic lupus erythematosus (SLE) is a chronic autoimmune inflammatory disease that affects multiple organs. More than half of the patients with SLE have kidney involvement, and up to 10% of patients with lupus nephritis develop end-stage renal disease (ESRD). Central nervous system (CNS) involvement in SLE occurs in 21% to 95% of patients. Severe neurological manifestations such as seizures, cerebrovascular disease, meningitis, and cerebrovascular accidents can develop in childhood-onset SLE, but cerebral infections, such as brain abscess and hemorrhage, are seldom reported in lupus nephritis, even in adults. Here, we report a rare case of childhood-onset SLE with ESRD, cerebral abscess, and hemorrhage. A 9-year-old girl diagnosed with lupus nephritis was administered high-dose steroids and immunosuppressant therapy to treat acute kidney injury (AKI) and massive proteinuria. The AKI deteriorated, and after 3 months, she developed ESRD. She received hemodialysis three times a week along with daily peritoneal dialysis to control edema. She developed seizures, and imaging showed a brain abscess. This was complicated by spontaneous cerebral hemorrhage, and she became unstable. She died shortly after the hemorrhage was discovered. In conclusion, CNS complications should always be considered in clinical practice because they increase mortality, especially in those with risk factors for infection.

• Childhood Kidney Diseases
• /
• 제22권2호
• /
• pp.64-66
• /
• 2018

Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary renal disease and causes terminal chronic renal failure. ADPKD is characterized by bilateral multiple renal cysts, which are produced by mutations of the PKD1 and PKD2 genes. PKD1 is located on chromosome 16 and encodes a protein that is involved in cell cycle regulation and intracellular calcium transport in epithelial cells and is responsible for 85% of ADPKD cases. Although nine cases of unilateral ADPKD with contralateral kidney agenesis have been reported, there have been no reports of early childhood ADPKD. Here, we report the only case of unilateral ADPKD with contralateral kidney dysplasia in the world in a four year-old girl who was intrauterinely diagnosed since she was 20 weeks old and followed for four years until present.

• Childhood Kidney Diseases
• /
• 제18권2호
• /
• pp.57-63
• /
• 2014

소아들의 여러 신장 질환 특히 만성신장병은 초기에는 뚜렷한 증세나 징후를 나타내지 않고 단독 단백뇨 또는 현미경적 혈뇨로만 나타나는 경우가 많다. 이런 신장 질환을 발견하기 위하여 소변검사는 여러 장단점에도 불구하고 간단하고 비용이 적게 드는 검사로서 선별검사에 이용하게 되었다. 우리나라에서는 신장 질환의 조기 발견을 위한 학교 집단소변검사가 1998년에 개정된 학교신체검사규칙에 근거하여 전체 초 중 고등학생을 대상으로 실시되었다. 그 이후에 많은 연구와 보고들이 학교 집단소변검사가 만성신질환의 조기 발견에 유용할 것이라고 하였지만 아직도 여기에 대한 이견이 있을 뿐만 아니라 비용 효과 등에 대하여서도 충분한 의견 일치를 얻지 못하였기에 코호트 연구 등의 장기적인 관찰적 역학 연구가 반드시 필요하다. 이를 위하여서는 신장학자들의 지속적인 연구뿐만 아니라 제도 개선 및 개발들이 반드시 동반되어야 할 것이다.

• Childhood Kidney Diseases
• /
• 제21권2호
• /
• pp.69-74
• /
• 2017

Purpose: Kidney transplantation (KT) is an ideal treatment for pediatric patients with end-stage renal disease (ESRD). We report the clinical outcomes of pediatric ESRD patients who underwent KT in a single regional center. Methods: We retrospectively investigated the medical records of 60 pediatric patients who were diagnosed with ESRD and underwent KT in our hospital between January 1985 and June 2016. Results: A total of 60 children and adolescents (40 male, 20 female; mean age, $13.86{\pm}4.26$ years) were included in this study. Six patients (10.0%) underwent KT immediately after receiving the diagnosis of ESRD, while the others underwent KT after dialysis treatment (mean period of dialysis, $368.7{\pm}4,41.8$ days). The mean donor age (50 living-related [83.3%], 10 deceased [16.7%]) was $40.0{\pm}12.85$ years and the male:female ratio was 1.07:1. The most common cause of ESRD was chronic glomerulonephritis. The overall survival rates at 1, 3, and 5 years after KT were 98%, 98%, and 96%, respectively, while the graft survival rates at 1, 3, and 5 years were 93%, 86%, and 68%, respectively. Children who underwent KT before 10 years of age had better monthly growth rates than those who underwent KT later than 10 years of age. Conclusions: KT is performed less frequently in children than in adults, but causes of ESRD vary and clinical outcomes after KT greatly affect the growth and development of pediatric patients. Therefore, further analysis and monitoring of clinical progression after KT in pediatric ESRD patients are necessary.

• Clinical and Experimental Pediatrics
• /
• 제52권10호
• /
• pp.1061-1068
• /
• 2009

만성 신질환 환아들의 치료는 신대체 요법과 더불어 적절한 식이 요법, 수분, 전해질 및 산-염기의 관리, 신장 골형성 장애의 예방 및 치료, 빈혈과 고혈압, 성장 지연의 치료 등으로 이루어진다. 식이 요법은 환아들의 성장이 충분히 이루어질 수 있도록 탄수화물, 지방, 단백질 및 열량의 공급이 적절하게 이루어져야 한다. 수분, 전해질 및 산-염기의 상태를 확인하고 적절하게 관리해야 한다. 혈청 칼슘, 인, 부갑상선 호르몬 농도가 사구체 여과율에 따른 적절한 목표치 안에서 유지될 수 있도록 인 결합 제제와 비타민 D 제제를 투여하여 신장 골형성 장애를 예방하여야 한다. 적혈구 생산 촉진제와 철분 제제를 투여하여 혈색소 값을 11-12 g/dl로 유지하여야 한다. 수분 및 염분의 균형과 적절한 항고혈압제의 투여로 고혈압을 조절해야 한다. 사람 재조합 성장 호르몬을 투여하여 최종 성인 키를 호전시키도록 한다.

• Childhood Kidney Diseases
• /
• 제24권1호
• /
• pp.47-52
• /
• 2020

Pneumocystis pneumonia (PCP) is a rare disease in healthy people but a potentially fatal opportunistic infection by Pneumocystis jirovecii in immunocompromised patients with organ transplantation. We present three cases of PCP after kidney transplantation in pediatric patients. First case was a 4-year-old boy diagnosed with Denys-Drash syndrome and received living-donor kidney transplantation from his mother at age of 1. Second case was a 19-year-old male, with polycystic kidney disease, who received kidney transplantation from his mother at the age of 18. Third case was a 19-year-old female with chronic kidney disease of unknown etiology, who received kidney transplantation from her father at age of 15. These three patients who were on immunosuppressive therapy and completed of routine PCP prophylaxis for 6 months had presented with cough and dyspnea more than 1 year after transplantation. Chest x-ray all showed diffuse haziness of both lung fields, and bronchoalveolar lavage from bronchoscopy revealed Pneumocystisjirovecii infection. All patients showed clinical resolution with intravenous trimethoprim-sulfamethoxazole (TMP-SMX) therapy for at least 3 weeks and had continued secondary prophylaxis for another 6-12 months. This report suggests that clinicians should have suspicion for the possibilities of opportunistic infection such as PCP after kidney transplantation in children.

• Childhood Kidney Diseases
• /
• 제15권1호
• /
• pp.1-13
• /
• 2011

Hypertension is a major risk factor of atherosclerosis which results in cardiovascular disease, and remains a major health problem worldwide. While children are more likely to have secondary hypertension, recent studies support the theory that the prevalence of essential hypertension in children and adolescents is increasing with the global epidemic of childhood obesity, and close attention is needed. Evaluation of hypertension in the pediatric age group should be guided by the age at presentation, and renal diseases must be considered in every child with hypertension, because of the prevalence of renovascular and renal parenchymal disorders as the etiology in any age group. The majority of children with chronic kidney disease are hypertensive, and many have associated end organ damage. Thus, once hypertension has been confirmed, end organ care as well as pharmacologic therapy must be continued. In renovascular hypertension, as cure could be gained with surgical/endovascular intervention, accurate diagnosis is important and it is recommended that every suspected child should undergo angiography.

• Childhood Kidney Diseases
• /
• 제26권2호
• /
• pp.111-115
• /
• 2022

Kleefstra syndrome is a rare genetic disease characterized by mental retardation, hypotonia, and a characteristic facial appearance. Furthermore, in some cases, Kleefstra syndrome is associated with various anorectal and genitourinary complications, including imperforated anus, vesicoureteral reflux, hydronephrosis, and chronic kidney disease. Herein, we present a case of Kleefstra syndrome with recurrent urinary tractinfections associated with vesicoureteral reflux and rectourethral fistula, which was treated by a multidisciplinary approach.

• Clinical and Experimental Pediatrics
• /
• 제61권2호
• /
• pp.37-42
• /
• 2018

Hemolytic uremic syndrome (HUS) is often encountered in children with acute kidney injury. Besides the well-known shiga toxin-producing Escherichia coli-associated HUS, atypical HUS (aHUS) caused by genetic complement dysregulation has been studied recently. aHUS is a rare, chronic, and devastating disorder that progressively damages systemic organs, resulting in stroke, end-stage renal disease, and death. The traditional treatment for aHUS is mainly plasmapheresis or plasma infusion; however, many children with aHUS will progress to chronic kidney disease despite plasma therapy. Eculizumab is a newly developed biologic that blocks the terminal complement pathway and has been successfully used in the treatment of aHUS. Currently, several guidelines for aHUS, including the Korean guideline, recommend eculizumab as the first-line therapy in children with aHUS. Moreover, life-long eculizumab therapy is generally recommended. Further studies on discontinuation of eculizumab are needed.