• 대한유전성대사질환학회지
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• 제11권1호
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• pp.88-98
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• 2011

Lesch-Nyhan syndrome is a X-linked recessive disorder caused by a deficiency of the enzyme hypoxanthine-guanidine phosphoribosyltransferase (HPRT), enzyme to recycle purines. Case history: born induced vaginal delivery at 40 weeks complicated by premature membrane ruputure, body weight 2.820 gm. He showed failure to thrive showing severe protein aversion like milk products and pink daper. Developmental delay revealing rolling over at 10.5 month, followed by regression. Seizure at 2 months, His poor oral feeding was lifelong problem. Weak crying, spastic, choreoathetoid movement. Self mutilating behavior noted and diagnosed at age 3 years. No family history of consanguinity and neurological disorders. Method: Laboratory test, physical exam, imaging study and molecular. Clinical follow up Treat ment with allopurinol. Result: uric acid 10.5 mg/dL (N 3.5-7.9), APRT 151.1uM/ min/ml pro(25.7-101), HPRT 7.6 (N 233.5-701) and c.151C>T hemizygote (p,Arg51X). Abdominal sonogram showed staghorn calculi in both kidneys, brain MRI brain atrophy. Clinical follow up showed, seizure at 2 mo, developmental delay (head control and, rolling over at at 11mo, pointing body part at 2 yr 7 mo, eye hand coordination at 2 y 11mo,creeping at 3 y 7 mo, speaking words at 6 y 6 mo ),and developmental regression at 3 yr of age. Sleeping problem including insomnia and severe constipation. Self mutilating behavior (lip bite) started at 2.5 yr, neurologic sx including intermittent upward gaze accompanied by swallowing difficulty at 3 y 7 mo grand mal seizure at 4.5 yr and spastic extremity and trunchal hypotonia and choleoathetoid movement and ataxia at 6.5 yr. Scoliosis with severe spasticity at 9 yr 9 mo. Acute life threatening episode with irregular breathing at 9 yr and 9 mo, Emaciation and nephrolithiasis and recurrent pneumonia. Died suddenly at 10 yr 3 mo. Conclusion: life long feeding problem, chronic gut motility dysfunction, sleeping difficulty and progressing neurologic deterioration and nephrolithiasis despite normal serum uric acid maintence by allopurinol treatment.

• 한국수의병리학회:학술대회논문집
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• 한국수의병리학회 2001년도 추계학술대회 및 정기총회
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• pp.30-30
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• 2001

Five years old Asian male elephant (Elephas maximus), transported from Malaysia, had showed slight inappetence and mild diarrhea from begining of stay at the zoo, and died after three months clinical therapy. Necropsy of this elephant grossly demonstrated ileocecal intussusception as the cause of the death, coupled with purulent nephritis together and nephrolithiasis, mild liver degeneration, numerous subepiacrdial and subendocardial hemorrhages. Bacteriological culture was conducted from renal pelvis revealing Klebsiella pneumonia infection. Histological findings included diffuse chronic interstitial nephritis with numerous amount of lymphocytes and giant cells. This is a unique combination of pathological findings consisting of intestinal intussusception and purulent pyelonephritis in elephant. This is the first description of intestinal intussusception together with severe nephritis in elephant

• 음성과학
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• 제14권4호
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• pp.221-232
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• 2007

Topiramate (TPM) is a new antiepileptic drug characterized by a clinical effective reduction in seizure frequency and it represents a useful drug effective in a wide range of epileptic patients. Known side effects are represented by weight loss, hypohidrosis, anorexia, sedation, nephrolithiasis, cognitive complaints and language disorders. This study is to examine acoustic characteristics of patients with TPM. 15 patients were assessed through a Computerized Speech Lab (CSL) applied before the beginning of therapy with TPM and 3 months after medication had been stabilized. Tests had been chosen to assess voice onset time (VOT), total duration (TD), vowel formants, loudness, pitch, speaking rate, and articulation patterns. We compared the data from patients and healthy volunteers. The statistical analysis of the results did not show changes in acoustic tests, except for TD which was increased. The increase of the TD is evaluated as a deterioration of fluency. Our results suggest that patients with TPM did not experience acoustic speech changes except that fluency was declined. Unlike previous studies, the medication of TPM has nothing to do with speech problems in patients with epilepsy.

• Childhood Kidney Diseases
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• 제8권1호
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• pp.51-56
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• 2004

고혈압성 뇌병증은 혈압상승과 함께 두통, 오심, 구토, 시력장애, 경련, 의식 변화 등을 특징으로 하는 급성 신경 증후군으로 소아에서는 대부분 급성 신장염이나 신혈관성 고혈압에 의해 발생하고 지금까지 요로 결석과 동반된 고혈압상 뇌병증의 보고는 없었다. 저자들은 요관 결석과 동반되어 발생한 고혈압성 뇌병증 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• 대한유전성대사질환학회지
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• 제23권1호
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• pp.12-16
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• 2023

Patients with inborn metabolic disorder (IMD) show multisystemic manifestations. Heterogenous renal manifestations can develop in IMD patients as well. In this review, the major renal manifestations of IMD and their representative IMDs are described. The major renal manifestations include Fanconi syndrome, renal tubular acidosis, nephrolithiasis, renal cysts and glomerulopathy, and diverse types of IMDs such as carbohydrate metabolism disorders, lysosomal disorders, organic acidemias, mitochondrial disorders, purine and pyrimidine disorders present renal manifestations. Therefore, general and regular renal function evaluation is recommended in addition to specific investigation according to IMD phenotypes.

• Asian Pacific Journal of Cancer Prevention
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• 제16권18호
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• pp.8293-8298
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• 2016

Background: Urinary stones are known predisposing factors for upper urinary tract carcinoma (UUTC) which are commonly detected at advanced stage with poor outcome because of rarity and lack of specific criteria for early detection. Aims and objectives: The main aim was to evaluate the impact of age, gender andstone characteristics on risk of developing UUTC in patients with chronic nephrolithiasis. We also discuss the role of aberrant angiogenesis (AA) and immunohistochemical expression of p53, p16INK4a, CK20 and Ki-67 in diagnosis of pelvicalyceal neoplastic (NL) and pre-neoplastic lesions (PNL) in these patients. Materials and Methods: Retrospective analysis of pelvicalyceal urothelial lesions from 88 nephrectomy specimens were carried out in a tertiary care centre from June 2012 to December 2014. Immunohistochemistry (IHC) was performed on 37 selected cases. Computed image analysis was performed to analyse aberrant angiogenesis. Results: All UUTC (5.7%) and metaplastic lesions were found to be associated with stones. Some 60% were pure squamous cell carcinoma and 40% were transitional cell carcinoma. Odd ratios for developing NL and PNL lesions in presence of renal stone, impacted stones, multiple and large stag horn stones were 9.39 (95% CI 1.15-76.39, p value 0.05), 6.28 (95% CI 1.59-24.85, p value 0.000) and 7.4 (95% CI, 2.29-23.94, p value 0.001) respectively. When patient age was ${\geq}55$, the odds ratio for developing NL was 3.43 (95% CI 1.19-9.88, p value 0.019). IHC analysis showed that mean Ki-67 indices were $3.15{\pm}3.63%$ for non-neoplastic lesions, $10.0{\pm}9.45%$ for PNL and $28.0{\pm}18.4%$ for NL. Sensitivity and specificity of CK20, p53, p16INK4a, AA were 76% and 95.9%; 100% and 27.5%; 100% and 26.5%; 92.3 % and 78.8% respectively. Conclusions: Age ${\geq}55years$, large stag horn stones, multiple stones and impacted stones are found to be associated with increased risk of NL and PNL in UUT. For flat lesions, a panel of markers, Ki 67 index >10 and presence of aberrant angiogenesis were more useful than individual markers.

• 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.

• Journal of Yeungnam Medical Science
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• 제3권1호
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• pp.375-382
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• 1986

We studied the effects of the acute intermittent peritoneal dialysis in severe acute renal failure of 1 newborn infant and 2 young infants during 18 months period from February 1985 to April 1986. The predisposing illnesses were severe acute gastroenteritis with dehydration. Reye's syndrome, and bilateral nephrolithiasis with hyperuricemia. The concomittent illnesses were severe hypernatremia, hyponatremia, hyperkalemia, hypocalcemia, hypoglycemia, DIC(disseminated intravascular coagulopathy), paralytic ileus, metabolic acidosis and gastrointestinal bleeding. As a dialvsate, Imperinol $solution^R$, 1.5% was used in all cases. The cycles of dialysis were 8, 16, and 41 times in each cases. Observed complications during dialysis were leakage, and abdominal wall and scrotol swelling in 2 cases, hyperglycemia in 1 case, and peritonitis in 1 case. Acinetobacter calcoaceticus was cultured in peritoneal fluid of peritonitis. These complications were treated by stopping dialysis in leakage and abdiminal wall swelling, insulin therapy in hyperglycemia, and intraperitoneal and systemic antibiotics therapy in peritonitis. We experienced improvements of severe acute renal failure with variable concomittant illnesses by acute intermittent peritoneal dialysis despite of the treatable complications of dialysis in all cases.

• Childhood Kidney Diseases
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• 제25권1호
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• pp.44-48
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• 2021

Idiopathic renal hypouricemia (iRHUC) is a rare hereditary disease caused by a defect in urate handling of renal tubules. Type 1 renal hypouricemia (RHUC1) is diagnosed with confirmation of a mutation in SLC22A12 gene which encodes a renal urate-anion exchanger (URAT1). The majority of iRHUC patients are asymptomatic, especially during childhood, and thus many cases go undiagnosed or they are diagnosed late in older age with complications of hematuria, renal stones, or acute kidney injury (AKI). We report a case of a 7-year-old boy with subtle symptoms such as general weakness and dizziness and revealed hypouricemia and incidental nephrolithiasis. Homozygous mutations were detected in the SLC22A12 (c.774G>A) by molecular analysis. The present case suggests that fractional excretion of uric acid (FEUA) screening could be better followed by the coincidental discovery of hypouricemia, to prevent conflicting complications of iRHUC, even with normal urine uric acid to creatinine ratio (U_UA/U_Cr), and sequential genetic analysis if needed.

• Childhood Kidney Diseases
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• 제26권2호
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• pp.80-85
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• 2022

Purpose: To determine the prevalence, clinical manifestations, and outcomes of renal involvements in pediatric Alagille syndrome (ALGS). Methods: A total of 21 patients diagnosed with ALGS at age under 18 years who visited Samsung Medical Center from March 1999 to March 2022 were enrolled. ALGS was diagnosed either by clinical manifestations, targeted JAG1 sequencing, and/or liver biopsy. Medical records including sex, age, renal manifestations, urinalysis, serum creatinine, JAG1 sequencing, and ultrasonography were retrospectively reviewed. Results: The male to female ratio was 9:12. The mean age of patients at confirmative diagnosis of ALGS was 18.4 months. Sanger sequencing was performed for 17 patients. Sixteen of 21 patients (76.1%) showed JAG1 mutations. Renal involvement was found in 10 patients (47.6%). The most common type of anomaly was renal dysplasia (40%). One patient having renal dysplasia was pathologically confirmed with glomerular lipid deposition. Two patients (20%) manifested nephrocalcinosis/nephrolithiasis. Among eight renal-involved patients who survived, four (50%) progressed to chronic kidney disease stage 3. Two of these chronic kidney disease patients were diagnosed with hepatorenal syndrome. The other four patients had renal functions preserved, including two without any interventions and two who underwent urological interventions. Conclusions: The current study revealed a high prevalence of renal involvement in Korean pediatric ALGS with diverse phenotypes.