• Childhood Kidney Diseases
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• v.19 no.1
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• pp.23-30
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• 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
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• v.28 no.1
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• pp.44-50
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• 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
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• v.22 no.2
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• pp.64-66
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• 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
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• v.18 no.2
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• pp.57-63
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• 2014

A number of kidney diseases of childhood may present as isolated proteinuria or/and hematuria, without any overt signs or symptoms. Urinalysis is a simple and inexpensive test used to evaluate various renal disorders. A school urine screening (SUS) program for kidney disease was conducted in Korea in 1998. Several research reports, including case reports and systemic reviews of SUS data, claimed that early detection and confirmatory diagnosis by renal biopsy seems to be helpful for determining the prognosis and intervention of progressive chronic renal disease. However, there is no global consensus as to whether screening for chronic kidney disease (CKD) should be undertaken in children and adolescents. This paper reviews the SUS for CKD in Korea, including the history and structure of the program, its assessment, related research, and associated problems.

• Childhood Kidney Diseases
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• v.21 no.2
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• pp.69-74
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• 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
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• v.52 no.10
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• pp.1061-1068
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• 2009

The treatment of pediatric patients with chronic renal disease comprises management of nutritional imbalance, fluid, electrolyte, and acid-base disturbances, mineral bone disease, anemia, hypertension, and growth retardation. The treatment also includes administration of appropriate renal replacement therapy, if required. Adequate dietary intake of carbohydrates, fats, and proteins and caloric intake must be encouraged in such patients to ensure proper growth and development. In addition, fluid, electrolyte, and acid-base status must be regularly monitored and should be well maintained. Serum calcium, phosphorus, and parathyroid hormone levels must be maintained at their target range, which are determined on the basis of the glomerular filtration rate, to avoid the development of mineral bone disease. This can be achieved by using phosphorus binders and vitamin D analogues. An erythropoiesis-stimulating agent must be administered along with iron supplementation to maintain the hemoglobin level of the patients between 11-12 g/dL. Hypertension must be controlled with adequate water and sodium balance and appropriate antihypertensive agents. Administration of recombinant human growth hormone is recommended to improve the final adult heights.

• Childhood Kidney Diseases
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• v.24 no.1
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• pp.47-52
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• 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
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• v.15 no.1
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• pp.1-13
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• 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
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• v.26 no.2
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• pp.111-115
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• 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
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• v.61 no.2
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• pp.37-42
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• 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.