• 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.26 no.2
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• pp.80-85
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• 2022

Purpose: To determine the prevalence, clinical manifestations, and outcomes of renal involvements in pediatric Alagille syndrome (ALGS). Methods: A total of 21 patients diagnosed with ALGS at age under 18 years who visited Samsung Medical Center from March 1999 to March 2022 were enrolled. ALGS was diagnosed either by clinical manifestations, targeted JAG1 sequencing, and/or liver biopsy. Medical records including sex, age, renal manifestations, urinalysis, serum creatinine, JAG1 sequencing, and ultrasonography were retrospectively reviewed. Results: The male to female ratio was 9:12. The mean age of patients at confirmative diagnosis of ALGS was 18.4 months. Sanger sequencing was performed for 17 patients. Sixteen of 21 patients (76.1%) showed JAG1 mutations. Renal involvement was found in 10 patients (47.6%). The most common type of anomaly was renal dysplasia (40%). One patient having renal dysplasia was pathologically confirmed with glomerular lipid deposition. Two patients (20%) manifested nephrocalcinosis/nephrolithiasis. Among eight renal-involved patients who survived, four (50%) progressed to chronic kidney disease stage 3. Two of these chronic kidney disease patients were diagnosed with hepatorenal syndrome. The other four patients had renal functions preserved, including two without any interventions and two who underwent urological interventions. Conclusions: The current study revealed a high prevalence of renal involvement in Korean pediatric ALGS with diverse phenotypes.

• 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.

• The Journal of Internal Korean Medicine
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• v.28 no.4
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• pp.791-796
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• 2007

Objective : This study was conducted to find the relationship between syndrome-differentiation and Sasang-constitution in chronic fatigue patients. Methods : The subjects were 72 adults with chronic fatigue who visited Dunsan Oriental Hospital of Daejeon University between March 2007 and April 2007. Their main complaint was fatigue for longer than 6 months and they did not have any physical or mental problems. We measured their fatigue degree by using Chalder fatigue scale and health habits. To evaluate relationship between syndrome-differentiation with sasang-constitution, The patients were divided into four syndrome-differentiations, such as liver and kidney asthenia of Yin, spleen and kidney deficiency of Yang, deficiency of lung and spleen qi, and deficiency of heart and spleen blood. We also diagnosed Sasang-constitution by using Questionnaire for Sasang Constitution Classification II (QSCCII). Results : Among the 72 patients, 41.4%, 34.5% and 24.1% of belonged in Soyangin, Soeumin and Taeumin respectively. Interestingly, we found a meaningful correlation between syndrome-differentiation and physiological function by Sasang-constitution. Conclusion : The result may help Oriental medicine understanding and treatment of chronic fatigue-related diseases and patients.

• Childhood Kidney Diseases
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• v.27 no.1
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• pp.19-25
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• 2023

Proteinuria is an important risk factor for renal and cardiovascular disease. It is associated with a risk for glomerulonephritis, chronic kidney disease, and end-stage renal disease. Therefore, if persistent proteinuria is detected, kidney biopsy is considered to diagnose and treat the underlying disease. Recently, variants in the cubilin (CUBN) gene, which is associated with albuminuria, have been reported. This gene encodes cubilin, a membrane glycoprotein receptor expressed in the renal proximal tubules. Cubilin is a component of the megalin and cubilin-amnionless complex that mediates albumin reabsorption into the proximal tubules through endocytosis. A defect in cubilin leads to a reduction in albumin reuptake, resulting in albumin-dominant proteinuria. Although numerous controversies exist, several reports suggest that cubilin defects lead to proteinuria with a high portion of albuminuria but may not impair renal filtration function. If albuminuria due to reduced cubilin function is confirmed as a benign condition, we can consider using genetic studies to detect CUBN mutations in patients with proteinuria and they may not require any treatment or kidney biopsy. Here, we review recent papers on CUBN mutations and discuss the prognosis and management of individuals with this mutation.

• Childhood Kidney Diseases
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• v.28 no.1
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• pp.1-7
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• 2024

Antenatally diagnosed urinary tract dilatation (UTD), previously referred to as antenatal hydronephrosis, is the most commonly detected abnormality by prenatal ultrasonography. Several grading systems have been developed for the classification of antenatal UTD using prenatal and postnatal ultrasonography. UTD comprises a wide variety of congenital abnormalities of the kidney and urinary tract ranging from transient UTD to more significant abnormalities such as vesicoureteral reflux, ureteropelvic junction obstruction, ureterocele, ureterovesical junction obstruction, posterior urethral valves, and non-refluxing megaureter. Optimizing the evaluation of antenatally detected UTD is essential to recognize children with important disorders while avoiding excessive investigations. Conservative approach with close follow-up is increasingly accepted as an appropriate treatment option for patients with asymptomatic vesicoureteral reflux and ureteropelvic junction obstruction in recent years. However, predicting permanent kidney damage in an unselected group of children with antenatal UTD is still challenging. The management and follow-up of children with UTD should be individualized based on recommendations from a pediatric nephrologist, a pediatric urologist, or both. Future research directed at predicting long-term outcomes of children diagnosed with UTD from mild findings to severe disease is needed to refine management for those at higher risk of kidney disease progression.

• Childhood Kidney Diseases
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• v.22 no.1
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• pp.7-11
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• 2018

Significant advances in the diagnosis and medical care of children with chronic kidney disease (CKD) are major reasons for the better survival rates of children and adolescents with CKD than the survival rates reported in previous decades. These patients are reaching adulthood, and therefore require a transition to adult medical care. This transition phase is well-recognized to be associated with considerably increased morbidities and medical problems, such as non-adherence, graft loss after transplantation, and loss to follow-up. Low adherence increases morbidity and medical complications and contributes to poorer qualities of life and an overuse of the health care system. However, these tragic outcomes may be avoidable through a structured and well-defined transition program. In the last decade, there has been increasing interest to resolve these medical and psychological problems that occur during the transfer of young adult patients from pediatric to adult renal units. The aims of a successful transition from pediatric to adult medical care include enhancing the individual development of better health-competence and stabilizing, or even improving, the state of health. This review will focus on various aspects of the transition phase of adolescents who have CKD or who underwent kidney transplantation from pediatric to adult nephrology care.

• 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.15 no.1
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• pp.22-28
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• 2011

Hypertension is one of the most common chronic diseases in childhood and adolescence. Untreated hypertension adversely affects many organs including heart, brain, kidney and peripheral arteries. We reviewed the complication of central nervous system caused by pediatric hypertension. Cerebral blood flows are maintained constantly in response to changes in blood pressure by cerebral autoregulation. Severe hypertension which destructs cerebral autoregulation results in acute hypertensive encephalopathy syndrome, ischemic or hemorrhagic stroke. Chronic pediatric hypertension induces learning disability and cognitive defect which are subclinical symptom prior to brain damage caused by severe hypertension. We should consider the effect of hypertension on pediatric brain because appropriate antihypertensive drugs could prevent these complications.

• Korean Journal of Veterinary Service
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• v.24 no.2
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• pp.139-146
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• 2001

To examine the prevalence and types of kidney lesions in Korean cattle, a survey was carried out at a abattoir in september 2000 and January 2001. The collected kidneys were examined grossly and histopathologically and investigated for the patterns of renal diseases with considering season and sex. Of 735 cattle (99 bulls and 246 cows in September and 140 bulls, 3 steers, and 247 cows in January) surveyed, 301 (41%) cattle had various renal lesions. The most common prominent finding was focal or multiple interstitial nephritis (36.2%). Other lesions included focal or multiple renal cyst (9.1%), infarction (0.1%), hemorrhage (0.3%), and renal atrophy (0.3%). Microscopically, main pathological lesions were acute or chronic interstitial nephritis with moderate infiltration of neutrophil or lymphocyte, respectively. Finally, the kidney lesions are more or less correlated with the meat quality, especially in female Korean cattle.