Purpose : Urinary lithiasis is uncommon in children, however, it may lead to chronic renal insufficiency and even end stage renal disease. The etiology of stone formation in children is largely unknown; although the most common causes are known to be associated with congenital anomalies of the genito-urinary(G-U) tract, urinary tract infections(UTI), and metabolic diseases. Methods : A total of 73 children(male:female=42:31, mean age $6.6{\pm}5.3$ years) presented with urinary lithiasis between Sep. 1998 and Jul. 2007 at Seoul National University Children's Hospital. The medical records were reviewed retrospectively. Results : The most common presenting symptoms were gross hematuria(28/73, 38%) and flank or abdominal pain(23/73, 32%). The stones were located in the upper urinary tract in 48 patients(66%), in the bladder in 18(24%), and in both the bladder and upper urinary tract in 2 (3%). Congenital anomalies of the G-U tract with/without UTI were detected in 30 children (41%), hypercalciuria with/without hypercalcemia in 15(20%), and other metabolic diseases in 8(11%). In 17 patients(23%), no underlying cause of stone formation was detected. The majority of stones were infected stones(24/36, 67%), which were followed by calcium stones(8/36, 22%), uric acid stones(3/36, 8%). and cystine stones(1/36, 3%). Thirty-four patients(46%) underwent surgical procedures and/or extracorporeal shockwave lithotripsy for stone removal, and 13(18%) passed stones spontaneously with/without medical management. Stones recurred in 6 patients(8%): 4 with neurogenic bladder augmented by ileocystoplasty, 1 with cystinuria, and 1 with unknown etiology. Conclusion : The common causes of urinary lithiasis in children were congenital anomalies of the G-U tract with/without UTI and metabolic disorders including hypercalciuria/hypercalcemia. For the management of stones, minimally invasive procedures should be chosen on the basis of accompanying symptoms and the composition, locations and etiology of stones.
Purpose : $Henoch-Sch\"{o}nlein$ purpura(HSP) is usually a self-limited disease with a good eventual outcome. The prognosis of HSP is mainly determined by the renal involvement. In this study, We evaluated children with biopsy-proven $Henoch-Sch\"{o}nlein$ purpura nephritis about the clinical outcome correlated with renal manifestation and morphologic findings. Methods : The clinical features, initial laboratory and pathologic findings, and clinical out-come were evaluated in 60 children with biopsy-proven $Henoch-Sch\"{o}nlein$ purpura nephritis at Yonsei University Severance Hospital during the period from Jan. 1990 to Dec. 2002. Results : The ratio of male to female patients was 1.2:1. The interval between the onset of $Henoch-Sch\"{o}nlein$ purpura and renal manifestation was less than 3 months in 81% of the patients. Initial renal manifestation was microscopic hematuria in 100% of patients, isolated hematuria in 15%, acute nephritic syndrome in 7%, nephrotic syndrome In 22% of patients. Renal manifestation correlated with clinical outcome. Grade II and III were the most common in histologic grades of ISKDC. Renal pathologic finding correlated with clinical outcome. Conclusion : Renal manifestation and pathologic findings correlated with the clinical out-come. It is necessary to evaluate the correlation between pathologic findings and treatment.
Park, Sang Jo;Hwang, Tae Gyu;Son, Byeong Hee;Kim, Chul Min
Clinical and Experimental Pediatrics
/
v.45
no.10
/
pp.1263-1272
/
2002
Purpose : Rett syndrome(RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000-15,000 female births worldwide. It was initially described by Andreas Rett in 1966. RTT involves developmental regression characterized stereotypic hand movements, tremors, gait apraxia, seizures, deceleration of head growth after the age of 6-18 months. The disease-causing gene was identified as MECP2 on chromosome Xq28. We carried out mutational analysis of MECP2 genes in RTT patients. Methods : Whole blood(5 cc) of 34 sporadic RTT patients was collected in EDTA-anticoagulated tubes. Genomic DNA was extracted from peripheral blood using the E.Z.N.A. blood DNA kit. Four exons of the MECP2 gene were amplified by PCR in 34 Korean with RTT. We carried out PCR divided the exon three into two parts and the exon four into five parts. Primer sequences designed by Amir et al. in 1999 were almost used(AF030876). Sequencing primers used were the same as PCR. DNA sequencing reactions were performed using an ABI 377 DNA sequencer and ABI PRISM dye terminator cycle sequencing reaction kit(Perkin-elmer). The results were compared with the normal DNA sequence(X99686). To confirm the change of sequence on novel mutations, RFLP analysis was performed. Results : The MECP2 mutations were detected in 23(67.6%) of the 34 patients. The mutations consisted of 12 different types including nine missense and three nonsense mutations. Of these, three (L100V, G161E and T311M) mutations were newly identified. Most of the mutations discovered are located within MBD(39.1%) and TRD(39.1%). In this study, three(T158M, R270X, R306C) mutations were identified high frequency. Conclusion : MECP2 gene was also an important cause of Korean RTT patients. MECP2 gene study is an important tool for diagnosis of Korean RTT patients.
Park, Youn Jin;Mun, Soon Jung;Bae, Chong Woo;Lee, Bum Ha;Kim, Jin Il
Clinical and Experimental Pediatrics
/
v.45
no.10
/
pp.1213-1218
/
2002
Purpose : Hydronephrosis constitutes a great portion of fetal anomalies screened by prenatal sonogram. The present authors made an attempt to access its natural courses through follow up neonatal hydronephrosis diagnosed by prenatal sonogram. Methods : The study was composed of 23 neonates(36 renal units) who were diagnosed with hydronephrosis through prenatal sonogram screening and confirmed 3-7 days after birth with sonographic evaluation at Kyung Hee University Hospital. The neonates were closely monitored for 12-24 months with renal sonogram, diuretic renogram, intravenous pyelography(IVP) and voiding cystoureterography(VCUG). Results : The underlying diseases were composed of 16 cases(44%) of functional abnormalities, 14 cases(39%) of ureteropelvic junction(UPJ) obstruction, three cases(8%) of vesicoureteral reflux (VUR) and on case each of multicystic dysplastic kidney, UPJ obstruction with ureteral stenosis and ureterovesical junction(UVJ) obstruction with VUR. The degree of hydronephrosis was divided into three classes according to its severity. In 30 renal units with UPJ obstruction and functional abnormalities, 26(87%) showed mild hydronephrosis, while four(13%) were moderate. During the follow up period, six cases(20%) showed natural resolution of hydronephrosis, 15 cases(50%) showed improvement while two cases(7%) were aggravated with improvement only after surgery of the underlying disease. The cases which showed natural resolution were all mild hydronephrosis at diagnosis and the cases which underwent surgery due to continuous aggravation were mild one case and moderate one case. Conclusion : Those with cases of mild hydronephrosis show rapid natural improvement. On the other hand, in some cases, follow up monitoring reveal aggravation of the situation, emphasizing the necessity for thorough follow up for a long period of time.
Purpose : The incidence of type 2 diabetes mellitus in children has been increasing worldwide recently, which is thought to be related to the increasing prevalence of obesity. We investigated to evaluate the incidence and the characteristics of type 2 diabetes mellitus in children and also analysed the relationship between intrauterine growth retardation and type 2 diabetes mellitus. Methods : We investigated 25 children diagnosed as type 2 diabetes mellitus between March 1990 and December 2000. The analysis was performed retrospectively with medical records based on the clinical characteristics and laborotory findings. Results : Incidence of type 1 and type 2 diabetes mellitus in children has been increasing since 1990. We demonstrated an increase in the percentage of type 2 diabetes mellitus children from 5.3% in 1990 to 21.0% in 2000. Sixty eight percent of patients(17/25) were classified as obese group. Initial symptoms at first visit were polyuria, polydipsia and polyphagia 48%(12/25), asymptomatic glycosuria 40% (10/25), weight loss 8%(2/25) and obesity 4%(1/25). The mean age at diagnosis was $12.9{\pm}1.8$ years. 64%(16/25) of patients had positive family history of type 2 diabetes mellitus. Autoanti-bodies were positive in 18.1%(4/22) of patients. Twenty eight percent (7/25) of patients had an associated disease and two patients had fatty liver in association with obesity. Treatment consisted of diet, exercise, education and oral hypoglycemic agents. Three patients were treated with insulin as well as oral hypoglycemic agents because of poor blood glucose control. Long-term diabetic complications occurred in 4 patients. Intrauterine growth retardtion was found in 34.6%(9/25); 88.9% (8/9) of these patients were non-obese group. Conclusion : The increase in the incidence of type 2 diabetes mellitus in children is thought to be related to the increasing prevalence of obesity. The non-obese group of patients might be associated with intrauterine growth retardation.
Purpose : Several complications can occur in patients who received bone marrow transplantation (BMT) during childhood and adolescence. This study aims to investigate endocrine dysfunctions after BMT so that better care can be provided to care for long-term survivors of BMT. Methods : One hundred patients (61 males, 39 females) were included in this study. Clinical parameters such as initial diagnosis, age at BMT, conditioning regimen, presence of graft-versus-host disease (GVHD), growth pattern, thyroid function, and pubertal status were retrospectively reviewed to evaluate risk factors associated with endocrine dysfunction. Results : Height standard deviation score (SDS) at BMT, after 1 year of BMT, and at the last visit were $0.08{\pm}1.04$, $-0.09{\pm}1.02$, and $-0.27{\pm}1.18$, respectively (P =0.001). Height SDS significantly decreased in patients who received total body irradiation (TBI) (P =0.017). One of the patients who received TBI demonstrated growth hormone deficiency. Thirty (31.9%) of 94 patients had compensated hypothyroidism. Incidence of compensated hypothyroidism was higher among those who had GVHD (odds ratio 2.82, P =0.025). Of the 32 patients (17 males, 15 females) who were over 14 years in male and 13 years in female at the last visit, 16 (3 males, 13 females) had increased luteinizing hormone (LH) or follicle-stimulating hormone (FSH). Abnormal elevation of LH or FSH was more common in females (odds ratio 30.3, P =0.001). Conclusion : The most common endocrine dysfunction was ovarian insufficiency. Regular check-up for endocrine function needs to be required due to high incidence of endocrine dysfunction in patients with BMT.
Jun, Youn Soo;Bang, Ho Il;Yu, Seung Taek;Shin, Sae Ron;Choi, Du Young
Clinical and Experimental Pediatrics
/
v.53
no.3
/
pp.392-396
/
2010
Purpose : The association between iron deficiency anemia and febrile convulsion in infants has been examined in several studies with conflicting results. Therefore, the authors aimed to evaluate the precise relationship involved. Methods : In this case-control study, the authors assessed 100 children with a diagnosis of febrile convulsion, aged between 9 months and 2 years, during January 2007 to July 2009. The control group consisted of 100 febrile children without convulsion; controls were closely matched to the cases by age, gender, and underlying disease. Results : The mean ages of the febrile convulsion and control group were $16.3{\pm}7.4$ and $15.8{\pm}6.1$ months, respectively, and the two groups had no differences in clinical features. Iron deficiency anemia (Hb <10.5 gm/dL) was more frequent in the febrile convulsion group than in the control group, although there was no statistical significance. Unexpectably, the RDW (red blood cell distribution width) was significantly lower and the MCNC (mean corpuscular hemoglobin concentration) was significantly higher among seizure cases than among the controls (P <0.05). There is no statistical difference between simple and complex febrile groups in the clinical and laboratory profiles. On multiple logistic regression analysis, iron deficiency anemia was more frequent, but the RDW was lower, among the cases with febrile convulsion, compared with the controls. Conclusions : Our study suggests that the iron deficiency anemia is associated with febrile convulsion, and screening for iron deficiency anemia should be considered in children with febrile convulsions.
Purpose : This study was performed to investigate the epidemiologic and clinical features of 13 respiratory viruses in children with acute lower respiratory tract infections (ALRIs). Methods : Nasopharyngeal aspirates were prospectively obtained from 325 children aged 15 years or less from May 2008 to April 2009 and were tested for the presence of 13 respiratory viruses by multiplex real-time-polymerase chain reaction (RT-PCR). Results : Viruses were identified in 270 children (83.1%). Co-infections with ${\geq}2$ viruses were observed in 71 patients (26.3 %). Respiratory syncytial virus (RSV) was the most common virus detected (33.2%), followed by human rhinovirus (hRV) (19.1%), influenza virus (Flu A) (16.9%), human metapneumovirus (hMPV) (15.4%), parainfluenza viruses (PIVs) (8.3%), human bocavirus (hBoV) (8.0%), adenovirus (ADV) (5.8%), and human coronavirus (hCoV) (2.2%). Clinical diagnoses of viral ALRIs were bronchiolitis (37.5%), pneumonia (34.5%), asthma exacerbation (20.9%), and croup (7.1%). Clinical diagnoses of viral bronchiolitis and pneumonia were frequently demonstrated in patients who tested positive for RSV, hRV, hMPV, or Flu A. Flu A and hRV were most commonly identified in children older than 3 years and were the 2 leading causes of asthma exacerbation. hRV C was detected in 14 (4.3%) children, who were significantly older than those infected with hRV A ($mean{\pm}SD$, $4.1{\pm}3.5$ years vs. $1.7{\pm}2.3$ years; P =0.009). hBoV was usually detected in young children ($2.3{\pm}3.4$ years) with bronchiolitis and pneumonia. Conclusion : This study described the features of ALRI associated with 13 respiratory viruses in Korean children. Additional investigations are required to define the roles of newly identified viruses in children with ALRIs.
Kim, Shin-Hye;Hur, Hae Young;Lee, Kyu Hyoung;Moon, Ja Young;Chae, Kyu Young
Clinical and Experimental Pediatrics
/
v.50
no.8
/
pp.746-752
/
2007
Purpose : Total hydroperoxide (TH), free radical-mediated oxidation product can be used as a measure of free radical injury. The aim of the present study was to see if preterm newborns are at increased risk for oxidative stress compared with term newborns, and to determine whether oxidative stress during postnatal first 1 week is associated with clinical outcomes in preterm infants. Methods : Serum TH levels of preterm infants (n=39) were compared with those of term infants (n=24) on the postnatal day 1. Among the preterm infants, serum TH levels of uncomplicated group (n=23) were also compared with those of complicated group (n=16) who developed oxygen radical related diseases on the postnatal day 1 and 7. Retrospective analysis was performed to find out risk factors for oxygen radical injuries based on birth history, laboratory data, neuroimaging findings and clinical progress in two preterm groups. Results : Serum TH levels on postnatal day 1 were higher in the preterm infant group than the term infant group. Serum TH levels on postnatal day 1 in the complicated preterm infant group were significantly higher compared with uncomplicated group, but there was no significant difference in serum TH levels on postnatal day 7. Also, there was no significant difference in serum TH levels between uncomplicated preterm infants and term infants. Serum TH level on postnatal day 1 was independently associated with higher morbidity after adjusting for gestational age, Apgar score (5 min), arterial blood gas analysis. Conclusion : Complicated preterm newborns are at increased risk for oxidative stress compared with uncomplicated newborns and term newborns. Oxidative injury during the prenatal or postnatal day 1 is associated with adverse outcomes in preterm infants. Elevated TH levels on postnatal day 1 may have a value to predict clinical outcomes in preterm infants.
Kim, Si-Ho;Lee, Young-Seok;Woo, Jong-Soo;Sung, Si-Chan;Choi, Pil-Jo;Cho, Gwang-Jo;Bang, Jung-Heui;Roh, Mee-Sook
Journal of Chest Surgery
/
v.40
no.1
s.270
/
pp.8-16
/
2007
Background: We performed a prospective clinical study to evaluate the ultrastructural integrity of the myocardium after using Histidine-Tryptophan-Ketoglutarate (HTK) solution in comparison with blood cardioplegic solution during congenital heart surgery. Material and Method: Twenty two patients with acyanotic heart disease, who were scheduled for elective open heart surgery, were randomized into two groups. The HTK Group (n=11) received HTK cardioplegic solution; the blood group (n=11) received conventional blood cardioplegic solution during surgery. The preoperative diagnoses included ventricular septal defect (n=9) and atrial septal defect (n=2) in each group. A small biopsy specimen was taken from the right ventricle's myocardium, and this was processed for ultrastructural examination at the end of 30 minutes of reperfusion. Semiquantitative electron microscopy was carried out 'blindly' in 4 areas per specimen and in 5 test fields per area by 'random systematic sampling' and 'point and intersection counting'. The morphology of the mitochondrial membrane and cristae were then scored. The interstitial edema of the myocardium was also graded. Result: The semiquantitative score of the mitochondrial morphology was $19.65{\pm}4.75$ in the blood group and $25.25{\pm}5.85$ in the HTK group (p=0.03). 6 patients (54.5%) in the blood group and 3 patients (27.3%) in the HTK group were grade 3 or more for the interstitial edema of the myocardium. Conclusion: The ultrastructural integrity was preserved even better with HTK solution than with conventional blood cardioplegic solution.
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