• 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.

• 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.

• 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).

• 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.

• 보험의학회지
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• 제2권1호
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• pp.218-232
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• 1985

Congenital hereditary disease is in devided into Infantile type and Adult type, Adult type is hidden for many years and keeps normal renal function till middle age. Cyst is stimultaneously made in both sides and becomes lowered in renal function in 30's to 40's. Infantile type is generally born with the big kidneys, renal failure, undergrowth of intrahepatic bile duct. Both infantile and childhood type have ureteral dilatation and portal hypertension In infantile type, it is mostly developed into renal failure, but generally faces death as a result of hepatic disease. The reason of death is that an abnormal condition of recessive autosome affects the liver and kidneys. While the incidence of infantile type is rare as $0.017{\sim}0.07%$ and it is autosomal recessive heredity, Adult type can rarely exist in infantile period. Though it exists in middle period, 50% of patients can live for 2-4 years after the first symptom incidence and 25% can less than 2 years. It is hard to cure completely in medicine and surgery. Three difficulties in familial incidence are comparative decrease of the donor who have no affection on renal transplantation. For another consideration it is to show the family history for several generations. We, the Med. Dept. of Dae Han Kyouk Life Insurance Co. Ltd., used the ultrasonic apparatus in diagnosing the one case of adult type bilateral polycystic kidney and then doubted the family history. As a result of inspecting the family we experienced bilateral polycystic kidney from 3 persons out of 4 who can be inspected. The results are as follows: 1) We could confirm the polycystic kidney from 3 persons out of 4(75%). 2) Then when they came for check up, chief complaint was the pain in all 3 cases(100%). 3) Accompanying disease was hypertension in 2 cases(67%). 4) In early disease incidence, we couldn't observe the specific change in pathological opinion. 5) All 3 cases are not accompanied with cystic lesion in liver, spleen, pancreas.

• 대한핵의학회지
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• 제25권2호
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• pp.237-244
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• 1991

$^{99m}Tc-DMSA$ renal scan has been evaluated not only the renal functional cell mass but also some anatomical structures at a loss of the renal parenchymal function. The author classified a renal morphology of the posterior image of $^{99m}Tc-DMSA$ renal scan as the groups of symmetric and asymmetric morphology, the groups of the large, normal and small sized kidneys, the groups of the central photon defects (PD) which could be noted in a dilated pelvocalyceal system due to obstructive uropathy and the cortical photon defects (CD) due to focal parenchymal lesions or scars after a loss of function and the last groups of the single and multiple CD for a suggestion of the clinical usefulness. Regarding to measurement of normal renal size, the longest size of the kidneys were evaluated with 5 cm of a lead scale on the posterior renal image, and those were decided to the limits beteen 104.1 and 119.4 mm as comparison with the renal size of intravenous pyelogram (IVP) in 59 cases who were underwent $^{99m}Tc-DMSA$ and IVP concommitantly. Among 85 cases of PD in $^{99m}Tc-DMSA$ renal scan, the 61 (71.8%) were cases of a dilated pelvocalyceal system related with obstructive uropathy, meanwhile the 28 (27.0%) of 162 cases with CD were cases of obstructive and infectious uropathy. The probability of a presence of some uropathy in cases of CD were 99.3%, meanwhile that of the presence of CD in cases of some uropathy were 37.9%. Besides, there were some specific anatomical findings such as polycystic kidneys with symmetric enlarged kidneys with multiple CD and the kidneys of chronic renal failure and/or hypertension with symmetric small size in $^{99m}Tc-DMSA$ renal stan.

• 보험의학회지
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• 제3권1호
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• pp.187-208
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• 1986

The conclusions which was acquired one renal cell carcinoma and renal disease 132 cases that was tested renal echogram among 4,499 cases for recent 16 months at medical department, Dae Han Kyoyuk Insurance company from August, 1984 to November, 1985 are as follows: 1. On bur ultrasonography, the echo of tumor was demonstrated with echogenicity as compared with renal parenchyme. 2. The case was stage I by Robson's modification method for pathologic histology. 3. There is no fever, typical triad of renal cell carcinoma and the result of serum biochemical test was within normal limit. 4. The frequency with disease was renal cell carcinoma(0.76%), ureteral stone(1.5%), multicystic kidney(2.27%), hydroureter(2.27%), Bilateral poly cystic kidney(4.55%), hydronephrosis(4.55%), renal agenesis(6.06%) renal calculi(18.18%), simple cyst(60.61%). 5. The frequency with age was 55/1200 case(4.58%) in $41{\sim}50$ years, 13/296 cases(4.39%) in $51{\sim}60$ years, 43/2144 cases(2.01%) in $31{\sim}40$ years, 14/791 cases(1.77%) in $21{\sim}30$ years, 7/53 cases(1.32%) more than 61 years and 0/15(0%) under 20 years. 6. The affected site of renal agenesis 8 cases was right side all. 7. In total renal disease 132 cases, the affected site of 126 cases except bilateral polycystic kidney 6 cases was right kidney 72 cases, left kidney the proportion of right to left 1.6:1 8. In total renal disease 132 cases except bilateral polycystic kidneys 6 cases, the patients affected with both side kidneys were 14 cases. 9. The affection rate with sex in total renal disease 132 cases was 98/2860 cases in male, 34/1819 cases in female and the former was about 2 times than the latter. 10. Classifying the stone with part, nephrolithiasis 24 cases were appeared high frequency, on the contray, ureteral stone 2 cases. 11. 2 cases of ureteral stone developed complication, hydronephrosis and hydroureter. 12. The linear array type transducer was not helpful for the diagnosis of lower ureteral calculi but for the lower ureteral calculi, we could see the stone with high echo in accompanying with acoustic shadowing. 13. In 24 cases of renal calculi, both side nephrolithiasis was 3 cases(12.5%). 14. In renal calculi, solitary stone could be seen extremely much and the number of stone was so much variable from 2 to 10. 15. In 26 cases with renal calculi and ureteral stone, the common clinical manifestation was a intermittent and slight pain. 16. In 80 cases of renal cyst, as one's get older, the affection rate of cyst extremely rised. 17. In bilateral polycystic kidney, large cyst had septum on the whole. 18. The patients with complication were 14 cases(10.6%) of total patients.

• 한국임상수의학회지
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• 제31권5호
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• pp.466-468
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• 2014

다낭신장병은 신장실질에 다수의 낭포가 형성되는 것을 특징으로 하는 사람, 개, 고양이에서 흔히 있는 유전성 질환으로서, 사육상태의 꼬마하마(pygmy hippopotamus)에서도 몇 몇 증례가 보고되고 있다. 2013년 1월 15일 체중 198킬로그램, 33년령 암컷 꼬마하마의 부검과정 중에 양쪽 신장에서 다낭신장병이 관찰되었다. 한 쪽 신장은 약간 종대된 반면 다른 쪽 신장의 아랫부분은 옅은 황색의 수양성 액체로 채워진 한 개의 큰 낭포가 있었다. 양측 신장 모두 직경 2 mm에서 20 mm의 다양한 크기의 액체가 함유된 다수의 낭포들이 관찰되었다. 상당한 부분의 신장 피질과 수질부가 낭포들로 대체되어 있었다. 현미경 검사에서 낭포들의 안쪽은 낮은 입방세포에서부터 편평상피세포들로 구성되어 있었다. 육안적인 소견과 조직병리학적인 검사로 다낭신장병으로 진단하였다. 본 증례보고는 한국에서 최초로 꼬마하마에서 다낭신장병이 확인된 것이다.

• 한국임상수의학회지
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• 제23권4권
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• pp.480-483
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• 2006

A spayed female, 1-year-old, Himalayan, weighing 1.89 kg, was referred. The clinical signs included anorexia, depression, vomiting, urinary incontinence and vaginal discharge for 7 days after elective ovariohysterectomy. In laboratory examination, there was moderate azotemia. Abdominal radiographic findings included heterogeneous serosal detail loss and right renomegaly. Abdominal ultrasonography showed hyperechoic ascites, bilateral polycystic kidneys, right hydronephrosis, and right hydroureter. Excretory urography demonstrated an ureterovaginal fistula. Exploratory laparotomy confirmed this diagnosis and explained that the right ureter had been included in a ligature around the cranial vagina.