• The Journal of the Korean life insurance medical association
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• v.3 no.1
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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.

• Parasites, Hosts and Diseases
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• v.52 no.3
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• pp.295-298
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• 2014

Primary renal echinococcosis, a rare disease involving the kidney, accounts for 2-3% of human echinococcosis. A 64-year-old female patient from Uzbekistan presented with complaints of left flank pain. A CT scan revealed a cystic mass in the upper to midpole of the left kidney. We regarded this lesion as a renal malignancy and hand-assisted laparoscopic radical nephrectomy was performed to remove the renal mass. The mass consisted of a large unilocular cyst and multiple smaller cysts without any grossly visible renal tissue. The final pathologic diagnosis was a renal hydatid cyst. For patients from endemic areas, hydatid cyst should be included in the differential diagnosis. Here, we present a case of renal hydatid cyst in a female patient who relocated from Uzbekistan to Korea.

• The Journal of the Korean life insurance medical association
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• v.2 no.1
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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.

• Childhood Kidney Diseases
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• v.11 no.2
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• pp.299-305
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• 2007

Herlyn-Werner-Wunderlich syndrome(HWWs) is a rare variant of Mullerian ductal anomalies characterized by the presence of a hemivaginal septum, a didelphic uterus, and ipsilateral renal agenesis. It usually presents after menarche with progressive pelvic pain, and palpable mass due to hemihematocolpos. If a cystic mass is detected behind the urinary bladder in children, in association with the absence of a kidney, the diagnosis of uterus didelphys with imperforate vagina and hydrocolpos should be considered. When renal agenesis is found in asymptomatic children, the small size and the tubular shape of the uterus makes it almost impossible to evaluate uterine anomalies, so follow-up should be performed until the end of puberty. Appropriate preoperative diagnosis and treatment will prevent unnecessary procedures and offer relief of symptoms. We report one case of didelphic uterus with blind hemivagina and ipsilateral renal agenesis with biopsy- proven thin glomerular basement membrane disease which is not related to the above syndrome.

• Clinical and Experimental Pediatrics
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• v.57 no.1
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• pp.1-18
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• 2014

Channelopathies are a heterogeneous group of disorders resulting from the dysfunction of ion channels located in the membranes of all cells and many cellular organelles. These include diseases of the nervous system (e.g., generalized epilepsy with febrile seizures plus, familial hemiplegic migraine, episodic ataxia, and hyperkalemic and hypokalemic periodic paralysis), the cardiovascular system (e.g., long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia), the respiratory system (e.g., cystic fibrosis), the endocrine system (e.g., neonatal diabetes mellitus, familial hyperinsulinemic hypoglycemia, thyrotoxic hypokalemic periodic paralysis, and familial hyperaldosteronism), the urinary system (e.g., Bartter syndrome, nephrogenic diabetes insipidus, autosomal-dominant polycystic kidney disease, and hypomagnesemia with secondary hypocalcemia), and the immune system (e.g., myasthenia gravis, neuromyelitis optica, Isaac syndrome, and anti-NMDA [N-methyl-D-aspartate] receptor encephalitis). The field of channelopathies is expanding rapidly, as is the utility of molecular-genetic and electrophysiological studies. This review provides a brief overview and update of channelopathies, with a focus on recent advances in the pathophysiological mechanisms that may help clinicians better understand, diagnose, and develop treatments for these diseases.

• Journal of Genetic Medicine
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• v.11 no.1
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• pp.31-35
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• 2014

Bardet-Biedl syndrome (BBS) is a rare ciliopathy generally inherited with an autosomal recessive pattern. BBS is characterized by 6 primary features namely retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning difficulties, and hypogonadism and a wide range of secondary features. To date, mutations in 16 genes have been identified as causative factors for BBS. Among them, the BBS1 and BBS10 genes are major disease-causing genes, and each of these gene mutations presents in more than 20% of all BBS patients. Genotype-phenotype correlations have not been observed in BBS, and there can be phenotypic overlap between BBS and other ciliopathies. In Korea, no molecular, genetically confirmed case of BBS has been reported to date. Herein, we describe the case of the first Korean siblings with BBS resulting from 2 BBS10 gene mutations who showed typical clinical phenotypes, including retinal dystrophy, obesity, intellectual disability, cystic tubular disease, and postaxial polydactyly.

• Korean Journal of Veterinary Research
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• v.34 no.4
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• pp.787-799
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• 1994

To elucidate morphologic lesion of porcine exudative epidermitis which is occurred sporadically in Korea, Staphylococcus hyicus subsp. hyicus isolated from the naturally affected pigs was inoculated to suckling pigs. The infected piglets were observed grossly and histopathologically. Although affected piglets were taking acute, subacute, or chronic course, some piglets suffered from chronic disease showed poor prognosis and marked growth depression. Affected peglets had erythematous skin on the face, ear, and abdomen and these localized lesions appear as brownish spots of exudative epidermitis and fromed crust in the early stage. But, after this stage, the skin were covered by viscous greasy exudate and formed blackish brown crust and appeared fissures and hypertrophy. Grossly, there has been hemorrhage with the removal of crust-like materials of epidermis and edematous subcutis. The superficial lymph nodes were edematous and swollen or congested and hemorrhagic. Some piglets had swollen ureters, cysts in the renal cortex, or polyarthritis. A few cases had mild edematous swelling of kidney, intestinal catarrh and congestion of brain. Microscopically, skin lesions had detachment of keralinized layer and parakeratosis of epidermis, hydropic degeneration of epidermal cell, and retrogressive degeneration of hair root sheath. Dermis had edema, and infiltration of neutrophils and mononuclear cells. As the disease was proceeded, there was marked perivasculitis with lots of mononuclear inflammatory cells. More chronic lesions formed granuloma-like bodies(nodules) due to more mononuclear, perivascular inflammatory cell infiltration and proliferation of fibroblast. Lots of plasma cells and eosinophils were also present in dermis. Epidermis was hyperplastic by proliferation of basal cells stratum germinativum and epidermal pegs often extended into the dermis. In secondary infection, lots of neutrophils could be seen in epidermis and derms. Kidney had neutrophilic infiltration, necrotic and cystic glomeruli, and dilation of renal tubules and ureters. Purulent arthritis was sometimes observed in joints. Three days old mice administrated Staphylococcus hyicus subsp hyicus subcutaneously before had focal congestion and hemorrhage, necrosis, and subcutaneous edema of the skin. This observation was also seen in the study of mice administrated exfoliatin toxin of Staphylococcus which evoked human staphylococcal scalded skin syndrome.

• Tuberculosis and Respiratory Diseases
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• v.67 no.2
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• pp.127-130
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• 2009

Bilateral interstitial infiltration in chest radiography, which may be fine granular, reticular or of ground glass opacity, is the typical radiographic findings of Pneumocystis jiroveci pneumonia. Recently, atypical radiographic features, including cystic lung disease, spontaneous pneumothorax or nodular opacity, have been reported intermittently in patients with P. jiroveci pneumonia. We report the case of a 29-year-old woman with a transplanted kidney whose simple chest radiography and HRCT scan showed numerous miliary nodules in both lungs, mimicking miliary tuberculosis (TB). Under the presumptive diagnosis of miliary TB, empirical anti-TB medication was started. However, Grocott methenamine silver nitrate staining of a transbronchial lung biopsy tissue revealed P. jiroveci infection without evidence of TB. These findings suggest that even in TB-endemic area other etiology such as P. jiroveci as well as M. tuberculosis should be considered as an etiology of miliary lung nodules in mmunocompromised patients.

• Journal of Korean Neurosurgical Society
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• v.48 no.3
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• pp.263-267
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• 2010

Although cerebellar hemangioblastomas are histopathologically benign, they yield a degree of malignant clinical behavior in long-term follow-up. We present two cases of long-term progression of renal cell carcinoma, which had been diagnosed as renal cysts during treatment for cerebellar hemangioblastoma. A 14-year-old male with von Hippel-Lindau disease was admitted for a cerebellar hemangioblastoma with multiple spinal hemangioblastomas and a renal cyst. After primary total resection of the cerebellar hemangioblastoma, the patient required two further surgeries after 111 and 209 months for a recurrent cerebellar hemangioblastoma. Furthermore, he underwent radical nephrectomy as his renal cyst had progressed to renal cell carcinoma 209 months after initial diagnosis. A 26-year-old male presented with multiple cerebellar hemangioblastomas associated with von Hippel-Lindau disease and accompanied by multiple spinal hemangioblastomas and multiple cystic lesions in the liver, kidney, and pancreas. He underwent primary resect'lon of the cerebellar hemangioblastoma in association with craniospinal radiation for multiple intracranial/spinal masses. Unexpectedly, a malignant glioma developed 83 months after discovery of the cerebellar hemangioblastoma. At the same time, renal cell carcinoma, which had developed from an initial renal cyst, was diagnosed, and a radical nephrectomy was performed. In the view of long term clinical course, cerebellar hemangioblastoma associated with von Hipple-Lindau disease may redevelop even after primary total resection. In addition, associated lesions such as renal cysts may also progress to malignancy after the passing of a sufficient length of time.

• BMB Reports
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• v.41 no.8
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• pp.593-596
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• 2008

ADPKD (Autosomal Dominant Polycystic Kidney Disease) is characterized by the progressive expansion of multiple cystic lesions in the kidneys. ADPKD is caused by mutations in Ed-pl. consider PKD1 and PKD2. Recently a relation between c-myc and the pathogenesis of ADPKD was reported. In addition, c-Myc is a downstream effector of PKD1. To identify the gene regulated by PKD2 and c-Myc, we performed gene expression profiling in PKD2 and c-Myc overexpressing cells using a human 8K cDNA microarray. NCAM (neuronal cell adhesion molecule) levels were significantly reduced in PKD2 overexpressing systems in vitro and in vivo. These results suggest that NCAM is an important molecule in the cystogenesis induced by PKD2 overexpession.