• Childhood Kidney Diseases
• /
• 제1권2호
• /
• pp.151-154
• /
• 1997

목적 : Turner 증후군의 임상양상은 핵형에 따라 차이가 있으며, 특히 왜소증및 외관상 특징은 X 염색체의 단완의 결실과 관련이 있으며 생식선 부전에 따른 임상증상은 주로 X 염색체의 장완의 결실과 관계가 있다고 알려져 있다. 여러 동반 기형외에도 신기형의 동반도 흔하게 보고되어 왔는데, 과거에는 50% 이상에서 동반된다고 하였으며, 최근에는 염색체 핵형에 따라 차이가 있음이 보고되었다. 이에 저자들은 한국 소아 Turner 증후군 환자에서 신기형의 동반율을 알아보고, 염색체 핵형에 따른 신기형의 동반율에 차이가 있는지 알아 보고자 본 연구를 시작하였다. 방법 : 염색체 검사를 시행하여 Turner 증후군으로 진단된 81명중 복부 초음파 검사를 시행하여 신기형의 유무를 알아냈던 76명을 대상으로 전형적인 45,XO,mosaicism인 경우, X염색체의 구조적 이상이 있는 경우로 나누어 신기형의 빈도를 비교 분석하였다. 결과 : 1) 염색체의 핵형은 전형적인 45,XO가 29례로 38%, mosaicism이 30례로 40%, 구조적 이상을 보인 경우가 17례로 22%이었다. 2) 각 핵형별 신기형의 동반율은 전형적인 Turner 증후군에서 5례로 17%, mosaicism인 경우 1례로 3.3%, 구조적 이상이 있었던 경우 1례로 6%를 보였다. 3) Turner 증후군에서 신기형의 동반율은 76례중 7례로 9.2%이었다. 4) 핵형간(전형적인 45,XO vs mosaicism)의 신기형의 동반율에는 통계적 차이는 없었다. (p>0.05) 결론 : 한국 소아 Turner 증후군 환자에서의 신기형의 동반율은 다른 외국 보고에 비해 매우 낮으며, 전형적인 45,XO형과 mosaicism Turner 증후군 간에 신기 형의 동반율에는 통계적으로 유의한 차이는 없었으나 전형적인 45,XO 형에서 신기형 동반율이 높은 것을 확인할 수 있었다.

• Journal of Dental Anesthesia and Pain Medicine
• /
• 제17권3호
• /
• pp.215-217
• /
• 2017

Branchio-oto-renal syndrome (BOR) is a rare autosomal dominant disorder. The features include branchial cysts, hearing loss, ear malformation, preauricular pits, retrognathia, congenital heart disease, and renal abnormalities. However, anesthetic management of these patients has seldom been reported. We report a case in which general anesthesia was performed for dental treatment in a patient with BOR. Airway management, renal function, and hemodynamic changes can be of critical concern during anesthetic management. A 13-year-old girl diagnosed with BOR had severe right hearing loss, right external ear malformation, renal abnormalities, and postoperative patent ductus arteriosus (PDA). Dental extraction under general anesthesia was scheduled for a supernumerary tooth. The procedure was completed with sufficient urine volume, adequate airway management, and stable hemodynamics.

• Childhood Kidney Diseases
• /
• 제19권2호
• /
• pp.154-158
• /
• 2015

Purpose: This study aimed to evaluate the status of renal function and the presence of urinary abnormalities in early adult patients with Turner syndrome (TS). Methods: Sixty-three girls with TS, who are attending pediatric endocrine clinics in Busan Paik Hosp., were studied. Urine and blood chemistry tests were performed in every visiting times. Renal ultrasonography was performed in all patients at the initial diagnosis, and intravenous pyelography, DMSA renal scan and renal CT were also performed, if necessary. Results: Of the 63 patients, the karyotype showed 45,X in 32 (50.8%), mosaicism in 22 (34.9%) and structural aberration in 9 (14.3%). The renal function at the latest visit was shown as normal in all patients. Nephrotic syndrome had developed in one patient. Hematuria was observed in seven patients. Renal anomalies were observed in 20 of the 63 TS (31.7%). Of the 32 TS patients with 45,X karyotype, 13 (40.6%) had renal anomalies, while these were found in 7 (22.6%) of 31 TS patients with mosaicism/structural aberration. But there was no significant statistical difference between two karyotype groups. Conclusion: Based on this study, most of the patients with TS do not have any significant problems related to renal function until early adulthood, regardless of renal malformation or hematuria.

• 한국동물생명공학회지
• /
• 제34권3호
• /
• pp.253-258
• /
• 2019

A female English bulldog was gave birth two neonates by cesarean section on the sixty one days after mating, but both neonates were died soon after birth. The bodies of neonates were diagnosed using radiography, ultrasonography, computed tomography and necropsy immediately after death. Both neonates had caudal regression syndrome, butterfly vertebra, hydrocephalus, umbilical hernia, cleft palate and bow-legged hind-limb. At necropsy, neonates had mild fetal anasarca, cleft lip and the skull was remained non-union. At thoracic cavity, only three ribs and thoracic spines were existed and patent ductus arteriosus was found. At abnormal cavity, the renal ectopia was found with abnormal morphology. In the present case, those English bulldog neonates with multiple congenital malformation syndromes seriously suffered vertebral column anomalies and that may induced by neural tube defects in during embryonic period. To prevent congenital malformation occurring in English bulldog, further in depth studies are needed for the breed specific genetic diversity and for the reason of behind genetic abnormality in these breed.

• Childhood Kidney Diseases
• /
• 제22권1호
• /
• pp.12-16
• /
• 2018

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital malformation syndrome that is characterized by a triad of uterine didelphys, blind hemivagina, and ipsilateral renal agenesis. There is a wide variety of phenotypic presentation which is recognized as a spectrum of disease rather than a separate entity. The exact incidence and pathogenesis of HWW syndrome are yet to be investigated. While this disease typically involves adolescent girls who present with abdominal pain or a pelvic mass that is secondary to hematocolpos, nowadays, a majority of potential patients with HWW are being prenatally screened for renal anomalies. Therefore, it is recommended to search for uterovaginal anomalies whenever a multicystic dysplastic kidney or the absence of a kidney is noted in a newborn female, and the role of pediatric nephrologists has become ever more important for early recognition of the disease.

• Journal of Yeungnam Medical Science
• /
• 제12권1호
• /
• pp.96-104
• /
• 1995

여러가지 색전물질이 조직내에서 어떤 변화를 야기시키며 또한 시간경과에 따라 어떤 변화를 보이게 되는지를 알아보기 위해 EVAL, Histoacryl, Ivalon을 이용하여 토끼의 신동맥을 통해 색전을 실시하였으며 시간경과에 따라 조직학적으로 검사하여 다음과 같은 결과를 얻었다. EVAL은 1주일이내의 초기단계에는 혈관 내에서 별다른 조직변화를 일으키지 않았으나 2주일 이내의 중기단계에는 혈관벽의 비후를 나타냈다. Histoacryl은 1주일이내의 초기단계에 벌써 심한 섬유소양 변성을 보여 심한 조직변화를 일으킨다는 것을 알 수 있었고 실험 예의 반수에서 신동맥의 폐쇄에 의한 경색을 볼 수 있어 강한 조직유착성을 시사해 주었으며 실제 환자에 적용함에 있어 주의를 환기시켜 주었고 혈류가 빠르거나 누공등이 있는 경우에 더욱 적절히 사용될 수 있음을 알 수 있었다. Ivalon은 초기에는 혈관염의 소견을, 중기에는 이물질반응에 의한 거대세포를, 후기에는 심한 섬유화의 소견을 보여 주었고 수술을 대신하는 치료적인 목적보다는 혈류를 줄여 수술을 보다 용이하게 해주는 등 수술의 보조적인 이용에 바람직할 것으로 기대된다.

• Clinical and Experimental Pediatrics
• /
• 제49권7호
• /
• pp.796-799
• /
• 2006

편측성 다낭성 신 이형성증과 폐의 선천성 낭성 선종양 기형은 각각 독립된 질환으로 배아 시기에 발생 과정의 문제로 생긴다고 알려져 있다. 폐의 선천성 낭성 선종양 기형에서 폐 외의 기형으로 신장 기형이 동반될 수 있으나 생존 가능성이 적어 사산아로 출생되는 경우가 많다. 저자들은 위장관염으로 입원한 21개월 남아에서 우연히 편측성 다낭성 신 이형성증을 발견했고, 이 과정에서 폐의 선천성 낭성 선종양 기형도 발견하였기에 보고하는 바이다.

• 생물정신의학
• /
• 제5권2호
• /
• pp.283-287
• /
• 1998

The mother was 24 years old, primipara, and had been taking carbamazepine 400mg(serum concentration $5.0-8.5{\mu}g/ml$) during pregnancy without any clinical seizures. A male baby with physical malformation was delivered on week 39. The malformation is extradigit(polydactily) on X-ray of right foot and left mild hydronephrosis on ultrasonography and renal scan with radioactive material. We reported this rare case and reviewed related articles about teratogenic effect of carbamazepine, mechanism of action and prevention of teratogenesis.

• Childhood Kidney Diseases
• /
• 제23권2호
• /
• pp.116-120
• /
• 2019

Bilateral renal obstruction is a rare critical condition, requiring a prompt diagnostic approach and treatment to restore the renal function. The most commonly observed obstructive uropathy in children is congenital malformation, such as posterior urethral valves and bilateral ureteropelvic junction obstruction. Malignant pelvic masses obstructing the ureter are widely reported in adults but are rarely observed in children. The treatment of ureteral obstruction related to pelvic malignancy is a therapeutic challenge with a median survival duration of 3-7 months in adults; however, pediatric patients with pelvic malignancy leading to ureteral obstruction had better outcomes, with a reported 5-year mortality rate of 20%, than the adult patients. Here, we report a rare case of bilateral ureteral obstruction associated with pelvic rhabdomyosarcoma presenting with acute kidney injury treated by ureteral diversion with double J stent, and concommittent emergency hemodialysis, leading to restoration of good renal function. We suggest that bilateral ureteral obstruction should be released as soon as possible using surgical or interventional approach to minimize the obstruction period, and subsequential chemotherapy may contribute to improvement of survival and recovery of renal function.

• 한국임상수의학회지
• /
• 제29권4호
• /
• pp.352-355
• /
• 2012

Hypospadias is a rare congenital malformation of the urethra reported in cattle. The urethral lumen of male indigenous Korean calf is open along the ventral aspect of the penis in the perineal region. Renal abscess and renal stone formation causing urinary tact infection has not been reported in hypospadia calves. The objective of this study was investigation for renal abscess and renal stone formation through autopsy. Histopathological examination and laboratory tests were performed. At autopsy, the pustules were formed on the right renal cortex, and the renal medulla abscess were formed on right and left part of the renal pelvis. Histopathological finding, this case was diagnosed as severe acute suppurative and necrotizing pyelonephritis, and severe chronic interstitial nephritis with fibrosis and moderate multifocal acute cystitis with edema. Milky exudate of the kidney has been identified as Actinomyces meyeri using the VITEK-2 system for identification of bacteria, and the stone has been identified as carbonate apatite using FT-IR system for quantification analysis. This case report describe the hypospadias complicated with urinary tract infection due to carbonate apatite stones and Actinomyces meyeri.