The Relevance between Renal Ultrasonographic Findings and Disease Course in Two Poststreptococcal Glomerulonephritis (PSGN) Patients

Poststreptococcal glomerulonephritis (PSGN) is one of the most well-known and important infectious renal diseases resulting from a prior infection with group A beta-hemolytic streptococcus. The typical clinical characteristics of the disease reflect acute onset with gross hematuria, edema, hypertension and moderate proteinuria after the antecedent streptococcal infection. In children, usually PSGN is healed spontaneously but if it combines with fast progressing glomerulonephritis, it would be developed to chronic renal failure. Therefore, it is important to make a fast diagnosis and treatment by simple tools to predict the course and the prognosis of disease. Sonography is a simple tool for diagnosis but there is no typical renal sonographic finding in PSGN, so it is difficult to predict the course and the prognosis of disease by sonographic findings. In comparison between two cases of renal sonographic findings in PSGN, a patient who showed more increased echogenicity in more extended area of renal sonography had the severe results of renal pathology, prolonged treatment period and low serum C3 level. Here, we report the different findings of renal sonography and pathology depending on the degree of severity between two patients. Thus, it is necessary to gather more information from further studies to make a consensus about the relationship between the renal sonography and the prognosis of disease in PSGN.

Identification of a Novel Mutation in the ATP7A Gene in a Korean Patient with Menkes Disease

Menkes disease is an infantile-onset X-linked recessive neurodegenerative disorder caused by diverse mutations in a copper-transport gene, ATP7A. Affected patients are characterized by progressive hypotonia, seizures, failure to thrive and death in early childhood. Here, we report a case of Menkes disease presented by intractable seizures and infantile spasms. A 3-month-old male infant had visited our pediatric clinic for lethargy, floppy muscle tone, poor oral intake and partial seizures. His hair was kinky, brown colored and fragile. Partial seizures became more frequent, generalized and intractable to antiseizure medications. An EEG showed frequent posteriorly dominant generalized spikes that were consistent with a generalized seizure. From a genetic analysis, a c.2743C>T (p.Gln915X) mutation was detected and diagnosed as Menkes disease. The mutation is a novel one that has not been previously reported as a cause of Menkes disease.

Effects of Body Composition, Leptin, and Adiponectin on Bone Mineral Density in Prepubertal Girls

Body weight is positively associated with bone mineral density but the relationship between obesity and bone mineral density is unclear. Leptin and adiponectin are potential independent contributors to bone mineral density. We assessed the correlations of body composition, leptin and adiponectin with bone mineral density, and whether leptin, adiponectin and body composition determine bone mineral density independently in prepubertal girls. Forty-eight prepubertal girls were classified into obese and control groups by body mass index. Serum leptin and adiponectin levels were determined by enzyme immunoassay. Bone mineral density was measured using dual energy radiography absorptiometry and body composition was measured using bioelectrical impedance analysis. Lean and fat mass, and leptin were positively correlated with bone mineral density. Lean mass was a positive independent predictor of femoral and L-spine bone mineral density. Serum leptin was a postivie independent predictor of femoral bone mineral density. Fat mass was a negative independent predictor of femoral bone mineral density. In prepubertal girls, lean mass has a favorable effect on bone mineral density. Fat mass seems not to protect the bone structure against osteoporosis, despite increased mechanical loading. Serum leptin may play a biological role in regulating bone metabolism.

Disorder of Sex Development with 5alpha-reductase Deficiency in Identical Twins / 대한소아내분비학회지

Children with abnormal sex development may present with ambiguous genitalia in the newborn period or lacking of secondary sexual characteristics in puberty. Clinicians should make a prompt and accurate diagnosis and counsel parents on therapeutic options to minimize or avoid medical and psychological complications. 5alpha-reductase deficiency is a rare autosomal recessive disorder of sex development caused by a mutation of the 5alpha-reductase type 2 gene. As a result, there is an abnormality in conversion of testosterone (T) to dihydrotestosterone (DHT) and children with 5alpha-reductase deficiency are born with ambiguous genitalia. Here, we report identical twins who presented with ambiguous genitalia with a 46,XY karyotype and were diagnosed as 5alpha-reductase deficiency.

The significance of anti-HBc and occult hepatitis B virus infection in the occurrence of hepatocellular carcinoma in patients with HBsAg and anti-HCV negative alcoholic cirrhosis / 대한간학회지

BACKGROUND/AIMS: Alcohol and the hepatitis B virus (HBV) exert synergistic effects in hepatocelluar carcinogenesis. We aimed to elucidate the clinical significance of the antibody to hepatitis B core antigen (anti-HBc) and occult HBV infection on the development of hepatocellular carcinoma (HCC) in patients with alcoholic liver cirrhosis (LC). METHODS: Patients with alcoholic LC alone (n=193) or combined with HCC (n=36), who did not have HBsAg or antibody to hepatitis C virus were enrolled. Clinical data and laboratory data including anti-HBc were investigated at enrollment. The polymerase chain reaction was applied to HBV DNA using sera of patients with HCC or LC after age and sex matching. RESULTS: Patients with HCC were older (60+/-11 years vs. 53+/-10 years, mean+/-SD, P<0.001), more likely to be male (100% vs. 89%, P=0.03), and had a higher positive rate of anti-HBc (91.2% vs. 77.3%, P=0.067), and a higher alcohol intake (739+/-448 kg vs. 603+/-409 kg, P=0.076) than those with LC. Age was the only significant risk factor for HCC revealed by multiple logistic regression analysis (odds ratio, 1.056; P=0.003). The positive rate of anti-HBc and alcohol intake did not differ in age- and sex-matched subjects between the LC (n=32) and HCC (n=31) groups. However, the detection rate of serum HBV DNA was higher in the HCC group (48.4%) than in the LC group (0%, P<0.001). CONCLUSIONS: Anti-HBc positivity is not a risk factor for HCC. However, occult HBV infection may be a risk factor for HCC in patients with alcoholic LC.

A Case of Surgical Treatment of Tuberculous Cholangitis and Lymphadenitis with Obstructive Jaundice due to Progressive Stricture of Bile Duct / 대한소화기내시경학회지

Obstructive jaundice is most commonly attributed to a malignancy or stones affecting the common bile duct. Biliary tuberculosis and lymphadenitis around the periportal area have also been implicated but cases are quite rare. A 24 year old man presented with jaundice and abdominal pain for 3 days. Abdominal CT and ERCP revealed a stricture of the extrahepatic bile duct with multiple enlarged lymph nodes showing necrotic foci located at the periportal area. The colonoscopic biopsy showed evidence of M. tuberculosis. The patient was treated with ERBD insertion and oral anti-tuberculosis therapy. However, the abdominal pain recurred and there was progressive stenosis of the common bile duct. A bile duct resection with choledochojejunostomy was subsequently performed. Frozen sections revealed granulomatous inflammation with caseation necrosis, which was consistent with tuberculosis. We report a case of tuberculous cholangitis and lymphadenitis with obstructive jaundice that was managed surgically due to the progressive stricture of the bile duct.

A Comparative Cross-sectional Study of the Development of Hepatocellular Carcinoma in Patients with Liver Cirrhosis Caused by Hepatitis B Virus, Alcohol, or Combination of Hepatitis B Virus and Alcohol / 대한소화기학회지

BACKGROUND/AIMS: Alcohol may be a cocarcinogen in patients with chronic viral hepatitis. We investigated the effect of alcohol on the development of hepatocellular carcinoma (HCC) in liver cirrhosis (LC) caused by hepatitis B virus (HBV). METHODS: All patients with LC or HCC associated with HBV or alcohol, admitted between March 2001 and June 2005, were included. Patients were divided into three groups according to the etiology of LC: Alcohol (AL), HBV, or HBV+alcohol (HBV+AL). Age and laboratory data at the enrollment of study were analyzed. The logistic regression coefficiency for the prevalence of HCC was calculated by using variables such as age, gender, serologic markers, and etiology of LC. RESULTS: In LC patients (n=342), the proportions of AL, HBV, and HBV+AL groups were 44%, 39%, and 17%, respectively. The proportions of HCC in AL, HBV and HBV+AL groups were 17%, 55%, and 76%, respectively. Age at the diagnosis of HCC was younger in HBV+AL than in AL group (p=0.036). In logistic regression analysis for the risk factor of HCC, odds ratio of age was 1.056 (p<0.001). Odds ratios of HBV and HBV+AL group comparing AL were 8.449 (p<0.001) and 17.609 (p<0.001), respectively. Therefore, old age and chronic alcohol intake in patients with HBsAg were the risk factors of HCC. CONCLUSIONS: Chronic alcohol intake may be an additive factor for the development of HCC in patient with LC caused by HBV. However, a prospective cohort study is needed to confirm these findings.

Clinical and Endocrinologic Characteristics of Children Referred for Precocious Puberty / 대한소아내분비학회지

PURPOSE: Precocious puberty is defined as the onset of secondary sexual characteristics before 8 year of age in girls and 9 year in boys. The purpose of this study is to analyze the spectrum of diagnoses made in a consecutive group of children referred for signs of precocious puberty and evaluate the clinical and endocrinologic characteristics of patients with precocious puberty. METHODS: The charts of all 948 children referred for evaluation of signs of precocious puberty between January 2003 and June 2007 in several referral centers were reviewed. Clinical features including age of onset, presenting symptoms, yearly growth rate, bone age advancement, weight, height, and body mass index were analysed and endocrine investigations included basal and gonadotropin releasing hormone (GnRH)-stimulated levels of luteinizing hormone (LH) and follicle stimulating hormone (FSH) as well as sex hormones. RESULTS: Of the 948 children referred for signs of precocious puberty, 915 (96.5%) were female and 33 (3.5%) were male. The final diagnoses made were early puberty (39%), premature thelarche (31%), true precocious puberty (27%) and precocious pseudopuberty (1%). The increases in yearly growth rate and bone age advancement were significant in true precious puberty group (P<0.05). The height and weight standard deviation score were significantly increased in true precious puberty and premature thelarche group compared to the average level according to gender and age (P<0.05). Endocrinologic studies showed that the level of basal LH, basal estradiol and GnRH-stimulated peak LH, peak FSH, peak LH/basal LH, peak FSH/basal FSH, peak LH/peak FSH ratio was all significantly higher in true precicous puberty group and early puberty group when compared to premature thelarche group (P<0.05). Neurogenic true precocious puberty among true precocious puberty was more common in boys (3 out of 7, 42.8%) than in girls (27 out of 253, 10.7%). Endocrinologic studies did not show any difference between idiopathic precocious puberty and neurogenic precocious puberty. CONCLUSION: The result of this study showed the proportion of true precocious puberty among the children referred for early pubertal signs was rather high. Collectively assessing all available data including detailed history, growth records, physical findings, laboratory studies and radiological imaging is important in the evaluation of a child with concerns of early pubertal maturation. Foregoing extensive studies regarding incidence and causes of true precocious puberty should be needed.

Neonate Born to Mother with Thyroid Disease / 대한주산의학회잡지

No abstract available.

A Case of Metabolic Syndrome in a Child with Normal Weight / 대한소아내분비학회지

The worldwide obesity epidemic is realized during the past few decades. The risk of developing metabolic syndrome increases steeply with increasing obesity. Increasing childhood obesity heralds a greater health burden in adult life. The metabolic syndrome associated with obesity includes insulin resistance, dyslipidemia, hypertension, fatty liver, coronary heart disease and stroke. Excessive fat is a well known risk factor of insulin resistance. Not only the amount of fat, also its pattern of regional distribution is important. Moreover in Asia, there is a demand for a more limited range for normal BMIs because of the high prevalence of obesity related diseases, particularly diabetes and hypertension. Asian populations have a greater percent body fat even at a low BMI and progression in the prevalence of diabetes with increasing BMI is seen. Anthropometric measurement such as height, weight and BMI is not enough to predict the disease risk, body composition analysis should be followed. Here we report a case of metabolic syndrome in a child with weight within normal range with the review of literatures to emphasize the importance body composition analysis.

A Case of Colon Obstruction Developed during the Recovery Period of Acute Pancreatitis / 대한소화기학회지

Complications of acute pancreatitis usually occur in pancreas and its contiguous organs. The prevalence of colonic invasion is rare, however, the consequence is fatal, with mortality above 50%. The initial symptoms and onset times are variable and major affected sites are transverse colon and splenic flexure. The spread of inflammatory exudates into the colon is the main mechanism of colonic invasion. If the colonic stenosis develops, it is necessary to manage it surgically. We report a case who arrived at the hospital with watery diarrhea and abdominal distension in the recovery period of acute alcoholic pancreatitis and was diagnosed as a colonic obstruction in the splenic flexure. The patient underwent loop ileostomy instead of the resection of the lesion because of severe adhesion around the splenic flexure. The patient died due to sepsis 5 days after the operation.

Analysis of X Chromosome Inactivation in Women with Premature Ovarian Failure / 대한산부인과학회잡지

OBJECTIVE: Premature ovarian failure (POF) is a highly heterogenous condition, and its etiology remains unknown in approximately two-thirds of cases. POF can be caused by Turner syndrome, genetic disease, iatrogenic agents such as chemotherapy and radiotherapy, infection and autoimmune disease. X chromosome inactivation is the random process in females during early embryogenesis to achieve dosage compensation with males. But skewed X chromosome inactivation occurs in the female carriers, secondary to cell-autonomous selection against cells in which the abnormal X chromosome is active. Highly skewed X chromosome inactivation is likely to occur in POF which caused by subcytogenetic X chromosome deletion or translocation and X-linked gene mutation. The present study was performed to investigate whether highly skewed inactivation of X chromosome is observed in POF. METHODS: Eighty-six women with premature ovarian failure were studied and eighty-three normal women were enrolled as a control group. X chromosome inactivation pattern were determined by studying methylation pattern of androgen receptor gene. RESULTS: Seventy-six of the 86 POF patients were informative for X chromosome inactivation assay, 8 (10.5%) of them showed highly skewed X chromosome inactivation. In the age matched control group, 3 (4.1%) out of the 74 subjects showed highly skewed X chromosome inactivation. However, this finding is not statistically significant (p=0.2274). Among highly skewed X inactivation, one case of premature ovarian failure revealed 46,XX,del(X)(p21) by high resolution band karyotyping. Therefore highly skewed X inactivation can provide clues to evaluate the causes in POF. CONCLUSION: This study suggests that screening of skewed X chromosome inactivation for the POF will be useful to detect subcytogenetic X chromosome deletion or translocation and X-linked gene mutation associated with POF.

Subdural Hematoma Occurring in a Patient with Systemic Lupus Erythematosus / 대한류마티스학회지

Systemic lupus erythematosus (SLE) is an autoimmune disease which may affect different organs and disclose various clinical manifestations. The clinical manifesations of central nervous system involvement in SLE are highly variable and range from mild cognitive dysfunction, movement disorder, headache, psychosis to life-threatening stroke and coma. Among neuropsychiaric disorders encountered in patients with SLE, cerebrovascular disease has relatively been rare complication. We experienced a case of subdural hematoma (SDH) occurring in a SLE patient which presented with headache. She was diagnosed as SDH by neuropsychiatric symptoms, brain CT, and brain MRI, and showed good response to medical treatment.

Evaluation of Growth Status Using Serum IGF-I and IGFBP-3 in Children with Mild Asthma / 대한소아내분비학회지

pose:Growth delay in asthmatic children has been reported, but the causes are unclear. In this study, we analyzed growth status in children with mild asthma and measured serum insulin-like growth factor (IGF)-I and insulin-like growth factor binding protein (IGFBP)-3 to evaluate the relationship between the growth status and growth factors. We also evaluated the difference in the relationship of height standard deviation score (HTSDS) according to weight standard deviation score (WTSDS) between children with asthma and controls. METHODS:58 children between the age of 9 months and 12 years, who visited Konkuk University Hospital between July 2002 to June 2003, with wheeze and responded to bronchodilators were enrolled as asthma group. 59 children between the age of 6 months and 14 years without any medical problem were enrolled as controls. Height and weight were measured for both groups and their standard deviation scores were calculated respectively. Blood samples were collected for serum IGF-I, IGFBP-3 levels and IGF-I/IGFBP-3 ratio were calculated from those values. The relationships between each growth status and growth factors were analyzed. RESULTS:The HTSDS and WTSDS were 0.17+/-.00, 0.38+/-.23 respectively for the asthma group; the HTSDS and WTSDS were 0.05+/-.95, 0.08+/-.06 respectively for the controls. IGF-I was 169.6+/-0.7 ng/mL, IGFBP-3 was 2146.0+/-36.5 ng/mL, and IGF-I/IGFBP-3 ratio was 0.08+/-.03 for the asthma group; IGF-I was 422.6+/-70.3 ng/mL, IGFBP-3 was 3409.6+/-61.1 ng/mL, and IGF-I/IGFBP-3 ratio was 0.12+/-.05 for the controls. In both groups, the concentration of IGF-I, IGFBP-3 and IGF-I/ IGFBP-3 ratio showed significant correlation with the age (P<0.01). In both groups, the correlation coefficient for WTSDS and HTSDS were 0.39 and 0.64, which were statistically significant. In the asthma group, the height gain was significantly smaller than the weight gain compared with controls (P<0.05). CONCLUSION: We concluded that in children with mild asthma the increment in HTSDS according to WTSDS is less than that of controls.

Fat Content in Stool of Children with Rotaviral Enteritis

PURPOSE: Rotavirus is a leading cause of severe gastroenteritis in infants and young children around the world. The aim of this study is to investigate the fat content in stools of patients with rotaviral enteritis compared to the stools of children who had no gastroenteritis. METHODS: Seventy two patients who were admitted to Konkuk University Hospital, College of Medicine from Jun 2001 to May 2002 due to rotaviral enteritis and seventy five patients who were admitted at the same time with other diseases with no gastrointestinal problems as control, were enrolled in this study. The age of patients was from one month to five years. The average age of children with rotaviral enteritis was 17+/-11 months and the average age of control patients was 14+/-15 months. Fat content of stools was investigated by acid steatocrit tests in both patients with rotaviral enteritis and control. RESULTS: Acid steatocrit value of patients with rotaviral enteritis was higher than that of control patients. There was no difference in acid steatocrit value of children with rotaviral enteritis among the age groups. In one month- to six month-old infants, there was no difference in acid steatocrit values between the children with rotaviral enteritis and control patients. But, over the age of seven months, the acid steatocrit value of children with rotaviral enteritis was higher than that of control patients. CONCLUSIONS: We are of the opinion that fat malabsorption in patients with rotaviral enteritis and steatorrhea in rotaviral enteritis may result from decreased fat absorption in the small intestine.

Acid Steatocrit in Korean Infants

PURPOSE: Steatorrhea tests have been developed using various methods. Acid steatocrit is a simple method to detect steatorrhea and has very high sensitivity and specificity. This present study was designed to establish the normal values of acid steatocrit in Korean infants and to find the difference according to the various feeding methods. METHODS: Acid steatocrit tests were conducted on 128 infants who were under 12 months of age and who had non-specific gastrointestinal diseases between May 1998 and April 2001. The results were classified into neonatal ages(79 neonates), 1-6 months(28 infants), 7-12 months(21 infants). This included formula-fed(46 neonates) and human milk-fed(33 neonates), 1-6 months formula-fed (18 infants) and human milk-fed(10 infants), 7-12 months formula-fed(11 infants) and human milk-fed(10 infants). RESULTS: The acid steatocrit values decreased by infant age in months. Acid steatocrit values decreased much more after 7 months of ages. The acid steatocrit values of human milk-fed infants were significantly lower than those of formula-fed infants. CONCLUSION: Our study confirms that a physiologic steatorrhea was found in the infant period and decreases by infant age of months. The acid steatocrit test might be useful for the evaluation of gastrointestinal milk fat malabsorption disorders and therapeutic effects.

Growth Hormone Receptor Mutation and Partial Growth Hormone Insensitivity in Children with Idiopathic Short Stature

PURPOSE: Children with idiopathic short stature(ISS) are classified on the basis of exclusion criteria. Short stature with normal or increased circulating growth hormone(GH) and low IGF-I levels indicates that partial growth hormone insensitivity(GHI) may play a role in ISS. The present study was performed to investigate whether partial GHI is observed in children with idiopathic short stature and whether partial GHI is related to growth hormone receptor(GHR) defect. METHODS: Twenty-five children with ISS were studied and 30 normal children were enrolled as control. Anthropometric measurement and IGF-I generation test were performed. The GHR gene was amplified by PCR, from leukocyte-derived DNA and sequenced directly. RESULTS: IGF-I level was increased after GH treatment, but there was no significant correlation between delta IGF-I and delta HTSDS, as well as between delta IGFBP-3 and delta HTSDS indicating partial GHI in children with ISS. When GHR genes were analyzed, polymorphism was observed. That is, adenine which is third base for 168 th amino acid was guanine. Furthermore this finding was observed in 100% of 55 children examined, which was a rather higher incidence compared to previous reports from other country. The first base of 526 th amino acid was either adenine or cytosine or heterozygous of adenine and cytosine, suggesting an occurrence of I526L variant. Deletions of one or two bases in flanking region of exon 3 and 8 were confirmed in Koreans, the same as it occurs in Japanese. There are differences in the sequences of human GHR gene among different ethnic populations. Wide variations of phenotype in ISS cannot clearly be explained by GHR gene alone. Variations or polymorphism of GHR genes remains to be functionally analysed. CONCLUSION: ISS might be due to the partial GHI which is resuls from mutation of GHR genes.

Metabolic Effects of Growth Hormone / 대한소아내분비학회지

No abstract available.

A Case of Mosaicism in Prader-Willi Syndrome:Detection Using Fluorescent in Situ Hybridization / 대한소아내분비학회지

Prader-Willi syndrome is caused by absence of paternal contribution of chromosome region 15q11-q13. PWS is clinically suspected and can be confirmed by laboratory tests. It is accepted that DNA methylation analysis is very useful screening test and FISH with specific probe can be used for deletion detection for PWS. In clinically suspected PWS patients, we conducted two genetic tests, FISH with SNRPN probe and SNRPN expression study with RT-PCR. We found discordance in one patient. This PWS male presented with severe obesity, hypogonadism and typical appearance with the history of neonatal hypotonia and feeding problems. The FISH showed the microdeletion in 15q11-q13 as expected, but the result of SNRPN expression was positive. We reviewed FISH and observed normal cells without deletion. Methylation analysis is not sensitive enough to identify cases of mosaic PWS. So, when the molecular screening is negative, precise clinical examination is essential and other cytogenetic analysis like FISH should be combined.

The Usefulness of Fluorescence in Situ Hybridization(FISH) in the Diagnosis of Prader-Willi Syndrome

PURPOSE: To detect microdeletion of 15q11-13 region, high resolution cytogenetic analysis or FISH with probe at Prader-Willi syndrome region can be used. We tried to evaluate whether FISH with SNRPN is a more effective method than G-banding microscope in the diagnosis of Prader-Willi syndrome. MEHTODS: Peripheral blood sampling was done on five patients who we suspected of Prader-Willi syndrome clinically and lymphocytes from peripheral blood sampling were cultured. G-banding microscope was used to detect the microdeletion in chromosome 15 and FISH with SNRPN probe was used to detect signal defect in band q11-q13 in chromosome 15. RESULTS: There was a fluorescent signal defect in band 15 q11-q13 in one of chromosome 15 in 4 children with FISH method and only one patient was diagnosed with Prader-Willi syndrome with G-banding microscope. CONCLUSION: FISH analysis is more accurate, objective, and time saving than G-banding microscope, therefore it can be considered as a more adequate screening test for the diagnosis of Prader-Willi syndrome.