• 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.

• 대한수의학회지
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• 제19권1호
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• pp.27-32
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• 1979

This paper dealt with the macroscopical and histopathological observations on the polycystic kidney occurred in a Korean native calf aged about a year. The results summarized are as follows: 1. In macroscopical findings, numerous cysts in the bilateral kidneys were seen under the renal capsule, and the cysts were various in size and clear or cloudy in their contents. The cysts in the inner area of the renal cortex were smaller than those of the outer area of the renal cortex in size and in number. 2. In microscopical findings, marked dilatations of Bowman's spaces and convoluted tubules were prominant feature. Numerous cysts with or without eosinophilic materials were contained atrophic glomerulus. prolferation of fibrous connective tissue, atrophy of convoluted tubules were also observed. Inner walls of the cysts were surrounded by cuboidal cells, sguamous cells or fibrous connective tissue. 3. This case was regarded as congenital polycystic kidney belonged to type III of Osathanondh and Potter.

• 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).

• Childhood Kidney Diseases
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• 제22권2호
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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.

• 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.

• 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.

• 대한한방내과학회지
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• 제41권2호
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• pp.132-140
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• 2020

Objectives: This research study aimed to determine the effect of Korean medicine treatments on a patient with lumbar disc herniation accompanying polycystic kidney disease. Methods: Acupuncture, herbal medicine, pharmacopuncture, spine decompression therapy, Motion Style Acupuncture Treatment (MSAT), and Chuna were preceded for treatment. We checked the patient's Oswestry Disability Index (ODI), numeric rating scale (NRS), and straight leg raise test (SLRT) on admission and discharge; we also used the NRS and SLRT to evaluate the patient's symptoms on every third day during the hospital stay. Because it is important to manage blood urea nitrogen (BUN), serum creatinine, and blood pressure during the early stage of polycystic kidney disease, BUN and serum creatinine levels were checked weekly while blood pressure was checked every morning. Results: Twelve days after admission, the NRS for lower back pain and right leg pain decreased from 7 to 3 and from 7 to 2, respectively. The ODI value also decreased from 56 to 20 while the SLRT value increased from 30/70 to 60/70. The BUN and serum creatinine levels and the blood pressure readings were all within normal range every time they were checked. Conclusions: The use of Korean medicine treatments resulted in improvements in NRS, ODI, and SLRT on a patient with a herniated lumbar disc herniated who had a past history of polycystic kidney disease; thus, the patient was able to maintaining kidney functioning. Herbal medicine, an alternative method of analgesic anti-inflammatory drugs that has been evaluated as relatively safe on liver and kidney function, could be suggested on a patient with a past history of polycystic kidney disease to maintain kidney function when renal function and blood pressure are monitored.

• 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.

• 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.