• The Journal of Korean Obstetrics and Gynecology
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• v.31 no.3
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• pp.33-49
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• 2018

Objectives: The purpose of this study was to investigate the correlation between Pattern identification instrument and biomarkers in polycystic ovary syndrome patients. Methods: Pattern identification instrument questionnaire, Sasang constitutional test, body composition test, pulse analyzing test, laboratory test were performed and the results were analyzed. Correlation analysis was performed between pattern identification and laboratory test results. Results: Testosterone, SHBG, $17{\alpha}$-OH-progesterone, AMH were highest in the Kidney-Yang Deficiency (腎陽虛) group. LH, FSH, LH/FSH ratio were the highest in the Endogenous Heat due to Yin Deficiency (陰虛內熱) group. DHEA-S was the highest in the Dampness-Heat in Liver Meridian (肝經濕熱) group. E2, Prolactin, Cholesterol, Triglyceride, HDL-Cholesterol, LDL-Cholesterol, Glucose (FBS), Insulin, HOMA-IR ratio, HbA1c were the highest in the Phlegm-Dampness (痰濕) group. Conclusions: In this study, we obtained basic data analyzing the correlation between pattern identification instrument and biomarkers in polycystic ovary syndrome patients. If further studies are performed, we expect to be able to obtain clues to study the mechanism of polycystic ovary syndrome.

• Childhood Kidney Diseases
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• v.5 no.2
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• pp.225-230
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• 2001

Multilocular cystic nephroma is a rare disease, noninherited benign renal neoplasm occurring in both children and adults. It is necessary to make a differential diagnosis from all renal diseases with a cystic component, such as Wilms tumor, harmatoma or polycystic dysplastic kidney in childhood. There are about only 200 case reports in the world since Walter Edmunds had described it first. We report a case of multilocular cystic nephroma presented with painless abdominal mass, treated with nephrectomy and confirmed with pathology. (J. Korean Soc Pediatr Nephrol 2001 ;5 : 219-24)

• BMB Reports
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• v.50 no.9
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• pp.460-465
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• 2017

Polycystic kidney disease (PKD) is one of the most common inherited disorders, involving progressive cyst formation in the kidney that leads to renal failure. FK506 binding protein 12 (FK506BP) is an immunophilin protein that performs multiple functions, including regulation of cell signaling pathways and survival. In this study, we determined the roles of PEP-1-FK506BP on cell proliferation and cyst formation in PKD cells. Purified PEP-1-FK506BP transduced into PKD cells markedly inhibited cell proliferation. Also, PEP-1-FK506BP drastically inhibited the expression levels of p-Akt, p-p70S6K, p-mTOR, and p-ERK in PKD cells. In a 3D-culture system, PEP-1-FK506BP significantly reduced cyst formation. Furthermore, the combined effects of rapamycin and PEP-1-FK506BP on cyst formation were markedly higher than the effects of individual treatments. These results suggest that PEP-1-FK506BP delayed cyst formation and could be a new therapeutic strategy for renal cyst formation in PKD.

• BMB Reports
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• v.52 no.7
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• pp.463-468
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• 2019

Autosomal dominant polycystic kidney disease (ADPKD), one of the most common human monogenic diseases (frequency of 1/1000-1/400), is characterized by numerous fluid-filled renal cysts (RCs). Inactivation of the PKD1 or PKD2 gene by germline and somatic mutations is necessary for cyst formation in ADPKD. To mechanistically understand cyst formation and growth, we isolated RCs from Korean patients with ADPKD and immortalized them with human telomerase reverse transcriptase (hTERT). Three hTERT-immortalized RC cell lines were characterized as proximal epithelial cells with germline and somatic PKD1 mutations. Thus, we first established hTERT-immortalized proximal cyst cells with somatic PKD1 mutations. Through transcriptome sequencing and Gene Ontology (GO) analysis, we found that upregulated genes were related to cell division and that downregulated genes were related to cell differentiation. We wondered whether the upregulated gene for the chemokine CXCL12 is related to the mTOR signaling pathway in cyst growth in ADPKD. CXCL12 mRNA expression and secretion were increased in RC cell lines. We then examined CXCL12 levels in RC fluids from patients with ADPKD and found increased CXCL12 levels. The CXCL12 receptor CXC chemokine receptor 4 (CXCR4) was upregulated, and the mTOR signaling pathway, which is downstream of the CXCL12/CXCR4 axis, was activated in ADPKD kidney tissue. To confirm activation of the mTOR signaling pathway by CXCL12 via CXCR4, we treated the RC cell lines with recombinant CXCL12 and the CXCR4 antagonist AMD3100; CXCL12 induced the mTOR signaling pathway, but the CXCR4 antagonist AMD3100 blocked the mTOR signaling pathway. Taken together, these results suggest that enhanced CXCL12 in RC fluids activates the mTOR signaling pathway via CXCR4 in ADPKD cyst growth.

• Childhood Kidney Diseases
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• v.28 no.2
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• pp.51-58
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• 2024

Patients with chronic kidney disease (CKD) bear a significant financial burden and face numerous complications and higher mortality rates. The progression of CKD is associated with glomerular injury caused by glomerular hyperfiltration and oxidative stress. Factors such as uncontrolled hypertension, elevated urine protein levels, anemia, and underlying glomerular disease, contribute to CKD progression. In addition to conservative treatment, several medications are available to combat the progression of CKD to end-stage kidney disease. Renin-angiotensin-aldosterone system blockers could slow the progression of CKD by reducing glomerular hyperfiltration, lowering blood pressure, and decreasing inflammation. Mineralocorticoid receptor antagonists inhibit the mineralocorticoid receptor signaling pathway, thereby attenuating inflammation and fibrosis. Sodium-glucose cotransporter 2 inhibitors exhibit protective effects on the kidneys and against cardiovascular events. Tolvaptan, a selective vasopressin V2-receptor antagonist, decelerates the rate of increase in total kidney volume and deterioration of kidney function in patients with rapidly progressive autosomal dominant polycystic kidney disease. The protective effects of AST-120 remain controversial. Due to a lack of evidence regarding the efficacy and safety of these medications in children, it is imperative to weigh the benefits and adverse effects carefully. Further research is essential to establish the efficacy and safety profiles in pediatric populations.

• BMB Reports
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• v.46 no.7
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• pp.338-345
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• 2013

microRNAs (miRNAs) are small non-coding RNAs that regulate gene expression by targeting the 3'-untranslated region of multiple target genes. Pathogenesis results from defects in several gene sets; therefore, disease progression could be prevented using miRNAs targeting multiple genes. Moreover, recent studies suggest that miRNAs reflect the stage of the specific disease, such as carcinogenesis. Cystic diseases, including polycystic kidney disease, polycystic liver disease, pancreatic cystic disease, and ovarian cystic disease, have common processes of cyst formation in the specific organ. Specifically, epithelial cells initiate abnormal cell proliferation and apoptosis as a result of alterations to key genes. Cysts are caused by fluid accumulation in the lumen. However, the molecular mechanisms underlying cyst formation and progression remain unclear. This review aims to introduce the key miRNAs related to cyst formation, and we suggest that miRNAs could be useful biomarkers and potential therapeutic targets in several cystic diseases.

• 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.

• Proceedings of the Zoological Society Korea Conference
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• 1998.10b
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• pp.355.1-355
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• 1998

No Abstract, See Full Text

• Childhood Kidney Diseases
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• v.26 no.2
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• pp.97-100
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• 2022

In response to the global coronavirus disease 2019 (COVID-19) pandemic, vaccines were developed and approved quickly. However, numerous cardiovascular adverse events have been reported. We present two adolescent cases who developed a hypertensive crisis following NT162b2 mRNA COVID-19 vaccination. Patient 1 was an 18-year-old male and his systolic blood pressure was 230 mmHg one day after the second vaccine. He was obese. No secondary cause of hypertension other than the vaccine was identified. Patient 2 was an 18-year-old male who complained with palpitation after the first vaccine. His blood pressure was 178/109 mmHg. He had autosomal dominant polycystic kidney disease. Both were treated with continuous infusion of labetalol followed by losartan, and blood pressure was controlled. Patient 2 received second vaccination and his blood pressure did not rise. It is warranted to measure blood pressure in adolescents at high risk of hypertension after NT162b2 mRNA COVID-19 vaccination.

• The Korean Journal of Physiology and Pharmacology
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• v.23 no.3
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• pp.219-227
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• 2019

Polycystic kidney disease 2-like-1 (PKD2L1), polycystin-L or transient receptor potential polycystin 3 (TRPP3) is a TRP superfamily member. It is a calcium-permeable non-selective cation channel that regulates intracellular calcium concentration and thereby calcium signaling. Although the calmodulin (CaM) inhibitor, calmidazolium, is an activator of the PKD2L1 channel, the activating mechanism remains unclear. The purpose of this study is to clarify whether CaM takes part in the regulation of the PKD2L1 channel, and if so, how. With patch clamp techniques, we observed the current amplitudes of PKD2L1 significantly reduced when co-expressed with CaM and $CaM{\triangle}N$. This result suggests that the N-lobe of CaM carries a more crucial role in regulating PKD2L1 and guides us into our next question on the different functions of two lobes of CaM. We also identified the predicted CaM binding site, and generated deletion and truncation mutants. The mutants showed significant reduction in currents losing PKD2L1 current-voltage curve, suggesting that the C-terminal region from 590 to 600 is crucial for maintaining the functionality of the PKD2L1 channel. With PKD2L1608Stop mutant showing increased current amplitudes, we further examined the functional importance of EF-hand domain. Along with co-expression of CaM, ${\triangle}EF$-hand mutant also showed significant changes in current amplitudes and potentiation time. Our findings suggest that there is a constitutive inhibition of EF-hand and binding of CaM C-lobe on the channel in low calcium concentration. At higher calcium concentration, calcium ions occupy the N-lobe as well as the EF-hand domain, allowing the two to compete to bind to the channel.