• 대한한방부인과학회지
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• 제27권3호
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• pp.151-157
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• 2014

Objectives: The aim of this study is to report the effect of oriental treatments for polycystic ovarian disease patient with amenorrhoea. Methods: A 27 years old women, who diagnosed polycystic ovarian disease, was enrolled in this study. She received oriental treatment such as herbal medicine, acupuncture for 8 months. And we proceeded to checkup female hormone regularly, such as Estrogen, LH, FSH, Prolactin. We observed the menstruation period and figure out LH/FSH ratio. Results: Polycystic ovarian disease patient restart cyclic menstruation. LH/FSH ratio of polycystic ovarian disease patient was decreased to normal level. Conclusions: In polycystic ovarian disease patient with amenorrhoea in this case, oriental herbal medicine and acupuncture treatment make cyclic menstruation and restore LH/FSH ratio to normal level.

• Childhood Kidney Diseases
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• 제1권1호
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• pp.91-96
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• 1997

Polycystic kidney disease is defined as a heritable disorder with diffuse involvement of both kidneys without dysplasia other than cysts. The major clinical entities of autosomal recessive polycystic kidney disease and autosomal dominant polycystic kidney disease have a considerable overlap in clinical presentations and radiographic features in the pediatric population. We experienced three cases of autosomal recessive polycystic kidney disease of neonate who expired within 24 hours due to respiratory difficulty and the other case was detected by gross hematuria. So we report four cases with brief review of literatures.

• 한국콘텐츠학회논문지
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• 제8권10호
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• pp.217-223
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• 2008

성인형 다낭성 간질환(adult polycystic liver disease, PLD)은 양성 질환으로 매우 드물고 상염색체우성 다낭성 신장질환(autosomal dominant polycystic kideny disease, ADPKD)을 동반한다. 다낭성 간질환(PLD)은 간실질에 여러 개의 미만성 낭성질환을 특징으로 하는 상염색체우성 유전성 질환이다. 간과 관련된 중요한 증상 또는 합병증이 발생할 수 있으며 이로 인하여 복강경 또는 간을 절제하거나 또는 절제 없이 천공설치술을 포함하는 치료가 이루어지며 간이식도 할 수 있다. 본 고찰에서는 복부 불쾌감이 있는 성인형 다낭성 간질환을 경험하였기에 초음파 검사와 복부 CT 소견에 대해 참고 문헌과 함께 보고하고자 한다.

• 혜화의학회지
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• 제14권1호
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• pp.59-65
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• 2005

One case of patient with adult polycystic kidney disease was reported in this clinical study. After the study, the results were as follows: The adult polycystic kidney disease(APCK) is inheritant disease in which cysts are distributed throught the cortex and medulla of both kidneys. It belongs to Hematuria in oriental medicine field. For this patient, it was effective to appliment acupuncture Hap-kok, Kok-chi, Oe-gwan, Chok-samni, Chok-imup, Sam-umgyo, Su-bun, Tae-chung and Hae-gye showed a great effect on decreasing the pain and increasing the volume of urine. For this patient, it was effective to dispense Gamiwuiryungtang(加味胃苓湯), Ohryungsan(五苓散) and Chungsimyeonjaeum(淸心蓮子飮), Dosubokryungtang(導水茯苓湯).

• BMB Reports
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• 제46권2호
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• pp.73-79
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• 2013

Polycystic kidney disease (PKD) is a common hereditary disorder which is characterized by fluid-filled cysts in the kidney. Mutation in either PKD1, encoding polycystin-1 (PC1), or PKD2, encoding polycystin-2 (PC2), are causative genes of PKD. Recent studies indicate that renal cilia, known as mechanosensors, detecting flow stimulation through renal tubules, have a critical function in maintaining homeostasis of renal epithelial cells. Because most proteins related to PKD are localized to renal cilia or have a function in ciliogenesis. PC1/PC2 heterodimer is localized to the cilia, playing a role in calcium channels. Also, disruptions of ciliary proteins, except for PC1 and PC2, could be involved in the induction of polycystic kidney disease. Based on these findings, various PKD mice models were produced to understand the roles of primary cilia defects in renal cyst formation. In this review, we will describe the general role of cilia in renal epithelial cells, and the relationship between ciliary defects and PKD. We also discuss mouse models of PKD related to ciliary defects based on recent studies.

• Childhood Kidney Diseases
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• 제27권2호
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• pp.76-81
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• 2023

Tolvaptan is a highly selective vasopressin receptor 2 antagonist that regulates cyclic adenosine monophosphate levels to inhibit both epithelial cell proliferation and chloride ion excretion, two mechanisms known to induce cyst expansion in autosomal dominant polycystic kidney disease (ADPKD). Tolvaptan is currently the preferred treatment of rapidly progressive disease ADPKD in adult patients; however, since cyst formation in ADPKD begins early in life, (frequently in utero), and significant disease progression with cyst expansion occurs in the first decade, tolvaptan may be advantageous as a preemptive treatment in children with ADPKD. Tolvaptan has already been used to successfully treat refractory edema or hyponatremia in children; this literature review provides insight into the biochemical basis of its action to contextualize its use in the pediatric population.

• BMB Reports
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• 제44권6호
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• pp.359-368
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• 2011

Polycystic kidney disease (PKD) is a common genetic disorder in which extensive epithelial-lined cysts develop in the kidneys. In previous studies, abnormalities of polycystin protein and its interacting proteins, as well as primary cilia, have been suggested to play critical roles in the development of renal cysts. However, although several therapeutic targets for PKD have been suggested, no early diagnosis or effective treatments are currently available. Current developments are active for treatment of PKD including inhibitors or antagonists of PPAR-${\gamma}$, TNF-${\alpha}$, CDK and VEGF. These drugs are potential therapeutic targets in PKD, and need to be determined about pathological functions in human PKD. It has recently been reported that the alteration of epigenetic regulation, as well as gene mutations, may affect the pathogenesis of PKD. In this review, we will discuss recent approaches to PKD therapy. It provides important information regarding potential targets for PKD.

• Journal of Genetic Medicine
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• 제17권1호
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• pp.51-54
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• 2020

Since the American College of Medical Genetics and Genomics and Association of Molecular Pathology published their guidelines in 2015, most interpretations of genetic tests have followed them. However, all variants have only limited evidence along 28 interpretation standards, especially de novo variants. When de novo variants, which are classified as variants of uncertain significance (VUS) due to lack of evidence, are detected, segregation in the affected family could provide an important key to clarifying the variants. Autosomal dominant polycystic kidney disease is the most common inherited kidney disorder with pathogenic variants in the PKD1 or PKD2 genes. We detected a novel in-frame deletion variant in the PKD1 gene, c.7575_7577del (p.(Cys2526del)), which was interpreted as a VUS. We analyzed this variant in a Korean family to decide for segregation. Here, we report the variant as a likely pathogenic variant based on the evidence of segregation in three affected relatives and two unaffected members.

• Journal of Genetic Medicine
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• 제13권1호
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• pp.36-40
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• 2016

Tuberous sclerosis complex (TSC, MIM#191100) is an autosomal dominant neurocutaneous syndrome caused by mutation or deletion of TSC1 encoding hamartin or TSC2 encoding tuberin and characterized by seizure, mental retardation, and multiple hamartomas or benign tumors in the skin, brain, retina, heart, kidney, and lungs. The TSC2 gene on chromosome 16p13.3 lies adjacent to the PKD1 gene which is responsible for autosomal dominant polycystic kidney disease (MIM#173900). The TSC2/PKD1 contiguous gene syndrome (TSC2/PKD1 CGDS, MIM#600273) is caused by deletion of both TSC2 and PKD1 gene. We recently experienced a 15 month-old boy and a 26 month-old girl with TSC2/PKD1 CGDS confirmed by multiplex ligation-dependent probe amplification (MLPA) analysis. They showed not only typical neurologic manifestations of TSC such as epilepsy, subependymal nodules, and subcortical tubers, but also polycystic kidney disease. The contiguous gene syndrome involving PKD1 and TSC2 should be suspected in children with enlarged polycystic kidneys and TSC. MLPA analysis is a useful method for the genetic confirmation of TSC2/PKD1 CGDS.

• BMB Reports
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• 제46권7호
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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.