The deficiency of enzyme hypoxanthine-guanine phosphoribosyltransferase(HPRT) results in hyperuricemia and subsequently manifests in diverse symptoms. Lesch-Nyhan syndrome is a disorder characterized by hyperuricemia, mental retardation, choreoathetosis, spasticity and self-mutilation, resulting from complete deficiency of the enzyme, whereas partial deficiency of the enzyme shows symptoms of milder forms more often without abnormal neurologic signs. A 7-year-old boy with normal growth and... |
Purpose : Unilateral ureteral obstruction(UUO), a well established experimental model of renal injury, gives rise to tubulointerstitial fibrosis, tubular dilatation and cellular atrophy. Angiotensin(ANG) II may take the prime role in the regulation of this response. The objectives in the current investigation were to determine whether the renal response to UUO involves the dedifferentiation of tubular epithelial cells to mesenchymal... |
Purpose : Long-term prognosis of Henoch-Sch nlein purpura(HSP) is determined by the existence and severity of renal involvement. We evaluated the relationship between various clinical features of HSP and the development of renal involvement using univariate and multivariate analyses for early detection and proper management of HSP nephritis. Methods : We performed a retrospective study of 200 children who were diagnosed... |
Intestinal lymphangiectasia, one of the protein-losing gastroenteropathies, is an uncommon disease characterized by dilated intestinal lymphatics, enteric protein loss, edema, hypoalbuminemia, and lympocytopenia. Small bowel biopsy and CT have been used to confirm the diagnosis of intestinal lymphangiectasia. Small bowel biopsy shows collections of abnormal dilated lacteals in submucosa with distortion of villi and CT findings have been described as... |
Purpose : This study aimed to evaluate risk factors of the first year relapse in children with nephrotic syndrome(NS) without the need for biopsy. Methods : We reviewed, retrospectively, 78 children diagnosed with steroid responsive nephrotic syndrome between July 1997 and June 2002. Median years to follow up were 4.4 years(range : 1-5 years). We divided the patients into two groups(group... |
Purpose : In order to investigate the role of endothelins in the cardiac development, the present study was designed to examine the effects of endothelin A receptor(ETAR) antagonist to the cellular proliferation and apoptosis in the neonatal rat heart. In addition, the expression of various regulatory genes in protein and mRNA levels by ETAR antagonist were examined. Methods : Neonatal... |
Purpose : Urinary tract infection(UTI) is the most common bacterial infectious disease that may induce severe renal injury unless early diagnosis and appropriate treatment are performed. If recurrent UTI is prevented, renal injury can be also reduced. Therefore, we studied the risk factors of recurrent UTI in children. Methods : We performed a retrospective study of 168 children(58 girls and 110... |
Purpose : To determine the postnatal changes in aldosterone action on the renal tubular reabsorption in low birth weight(LBW) infants, we assessed the relation of the aldosterone concentrations to renal parameters during the first 10 days of life. Methods : Twenty LBW infants were evaluated and their gestational ages ranged from 32.4 to 39.3 weeks and their birth weights ranged from... |
Purpose : This study was aimed at finding a diagnostic tool which is useful in predicting the neurologic outcome of the asphyxiated newborns. Methods : 31 newborns with asphyxia were evaluated by brainstem evoked potentials and cranial ultrasonography(CUS). During the neonatal follow-up, we evaluated the development of the babies with Bayley Scale of Infant Development II and INFANIB on corrected age... |
Graves disease is the most common clinical feature of hyperthyroidism in childhood. Clinical manifestations include emotional lability, hyperactivity, tremor, excessive sweating, exophthalmos and weight loss. In Graves disease, osteoporosis could occur because of a disturbance of mineral homeostasis which rarely develops from reduced calcium absorption of the gastrointestinal tract and increased urinary calcium excretion related to an increased bone resorption.... |
Purpose : Diagnosis of a hemodynamically significant patent ductus arteriosus(PDA) that should be treated is difficult to determine by clinical and echocardiographic examinations. The aim of this study was to clarify the interrelationship of plasma atrial natriuretic peptide(ANP) concentrations and clinical signs or echocardiographic signs of PDA in preterm infants and use plasma ANP concentrations as a diagnostic indicator of a hemodynamically significant PDA. Methods... |
Factor Ⅶ deficiency has an estimated incidence of 1/500,000 in the general population and autosomal recessive pattern of inheritance. Factor Ⅶ deficiency is characterized by prolonged prothrombin time(PT), and normal activated partial thromboplastin time(aPTT) and bleeding time(BT). Definite diagnosis of this condition requires a specific Factor Ⅶ assay. The clinical features are variable and do not always correlate with the... |
Purpose : The renin-angiotensin system plays an important role in renal growth and development. Exposuring the neonate to angiotensin converting enzyme(ACE) inhibitor increases mortality and results in growth retardation and abnormal renal development. ACE inhibition in the developing kidney reduces the renal expression of TGF-β1 and EGF, which may account for renal growth impairment. This study was designed to... |
The 18q-syndrome is a deletion disorder that occurs in humans. Clinical symptoms are mental retardation, craniofacial anomalies, skeletal deformity, seizure, and hearing loss. 18q- deletion occurs over a broad region, spanning the interval from 18q22.2 to 18qter rather than a single critical region containing 18q. We experienced a case of 18q-syndrome in a male child. It was diagnosed by clinical... |
Purpose : This study was performed to observe the utilization of ultrasonography in locating the position of UAC and to compare the position with anatomical landmarks seen on radiography. Methods : Optimal position is when the catheter tip is located between T6-T10 or L3-L5 by anteroposterior radiography(AP-R) and above the diaphragm by cross-table lateral radiography(CTL-R). Ultrasonographic studies used a Hewlett Packard... |
Purpose : Long-term steroid therapy for various glomerular disorders in children has been known to decrease serum Vit D3 level and develop osteomalacia. The aim of this study was to observe the effect of long-term steroid therapy on growth and bone density in children with nephrotic syndrome. Methods : Bone density of 17 steroid-treated nephrotic syndrome was compared with that of... |
Purpose : To evaluate the association between neonatal mortality and the initial response to surfactant replacement therapy, and to examine the correlation between the response type and other prognostic factors. Methods : Sixty-seven neonates with respiratory distress syndrome(RDS) were divided into two groups; group I(n=51) who survived and group II(n=16) who died within the first 28 days of life after one... |
Purpose : Routine liver function test follow up is done in epileptic children receiving antiepileptic drugs to prevent hepatotoxicity induced by these drugs. But rarely seen are the abnormalities of liver function test, and seldomly are these abnormalities accompanied by the clinical manifestation. This study is carried out to assess the efficacy of routine liver function test follow up in... |
Purpose : There have been controversies on the hematologic effects of antiepileptic drugs according to the mono or combined antiepileptic therapy. We evaluated the hematologic changes of the patients who have been taking antiepileptic drugs for more than 4 months and compared the changes of these values according to the mono or combined therapy. Methods : From May,1989 to April,1995, we had examined the blood... |
Purpose : Urinary red blood cell morphology has been used to localize the site of hematuria in the urinary tract. But the pathologic mechanism for dysmorphic urinary red blood cells remains undefIned. Our study was undertaken to investigate the mechanism of dysmorphic urinary RBCs in glomerular hematuria. We have attempted to reproduce in vitro the changes that occur in red cell... |
Bone mineral densitometry is a useful procedure for the early detection of metabolic bone diseases and bone density changes caused by long term drug use. Dual energy X-ray absorpt- iometry(DEXA), a recently developed diagnostic radiologic method for evaluating bone mineral density is widely used because of its high sensitivity, easily obtaine results. and low dose radi- ation exposure. The study... |
Xanthogranulomatous pyelonephritis in childhood is a rare chronic pyelonephritis often assodiated with calculi of urinary tract obstruction, with a clinical presentation of renal mass. A 3-year old boy was admitted to Korea University Hospital complaining of intermittent fever and palpable mass at right upper quadrant of the abdomen. The CBC revealed increased ESR and the finding of iron deficientcy anemia.... |
The hyperlipoproteinemias are the disturbance of lipid transport resulted from accelerated synthesis or retarded degradation of lipoproteins that transport cholesterol and trigycerides through plasma. These diseases are classified as type I, type IIa, type IIb, type III, type IV, type V, and hyper-α-triglyceride levels due to increases in both VLDL and chylomicrons and lipoprotein electrophoresis shows increases pre-β, β, and... |
Schölein-Henoch purpura is a generalized small vessel vasculitis characterized by non-thrombocytopenic purpura, arthritis, abdominal pain and nephritis. In 1913 Osler described an allergic purpura associated with hemiplegia. After then Lewis et al. Reported the cases of Schölein-Henoch purpura associated with convulsion, coma, confusion, intracranial hemorrhage, and chorea, CNS complication has been reported in 1-8% of children and subsided spontaneously in... |
Purpose : Menstruation is a great part as the procedure for physiological, psychological development and physical growth, and menstrual disorders are very common problems in adolescence period. These problems can be resolved by interview or appropriate education of normal pubertal development. However unlike other developed countries, systematic report or appropriate education for menstruation may not be performed in our country.... |
Miescher syndrome comprises congenital acanthosis nigricans, hypertrichosis, failure to thrive and short stature, dysmorphism especially of the jaws and oral cavity. Insulin-resistant diabetes mellitus, and a characteristic general appearance. This report concerns a rare case of 12-year-old girl having insulin resistant diabetic mellitus with Miescher syndrome. The relevant literature was reviewed. |
Paraquat (1, 1'-dimethy1-4, 4'dipyridium chlorde: Gramoxon¢c) was first discovered in England in 1955. It has been widely distributed for use in Korea since 1970 as a pesticide and also often the cause of accidental intoxications. The authors would like to report the following case of paraquat intoxication in a 13 year old female child admitted via emergency room with complaints... |
The frequent occurrence of hematuria in children necessitates diagnostic evaluation. Hematuria may occur with either renal or lower urinary tract disease. Clarification of the etiology of hematuria, whether microscopic or gross, is facilited by localizing the site of bleeding to the kidney(glomerular) or the lower urinary tract (non-glomerular). The mean cellular volume (MCV) of urinary red blood cells (RBCs) of... |
Lipoprotein(a) [Lp(a)] is considered an additional, independent and largely genetically determined risk factor for the development of premature coronary heart disease. Furthermore abnormal plasma lipoprotein patterns have been associated with increased risk for developing coronary heart disease. Among these lipoproteins, an increased concentration of serum Apo B and decreased level of Apo A are considered as major risk factors, together... |
Congenital hypoprothrombinemia is a rare congenital coagulation defect. The clinical signs are manifestation of generalized bleeding tendency such as; mucosal bleeding, hypermenorrhea and post tooth extraction hemorrage. It is associated with prolongation of PT and PTT with normal thrombin time and decreased serum prothrombin level. A case with congenital hypoprothrombinemia was experienced by the authors. A 36 days old male baby... |