Desmopressin responding female nephrogenic diabetes insipidus: a case report

Nephrogenic diabetes insipidus, decreased ability to concentrate urine, with production of large amounts of urine, is caused by the refractory response of renal tubules to the action of antidiuretic hormone. This rare disorder, known as X-linked nephrogenic diabetes insipidus, is caused by a mutation in the arginine vasopressin receptor 2 gene. Because it is hereditary, most patients are male. This report highlights a case of nephrogenic diabetes insipidus in a 3-year 5-month-old female; upon presentation to the hospital, her symptoms included frequent urination and consumption of a significant amount of water, which had begun 2 years ago. The results of blood tests showed increased levels of serum antidiuretic hormone, and sellar magnetic resonance imaging showed no abnormality. The results of the water restriction test and the desmopressin administration test confirmed the diagnosis of nephrogenic diabetes insipidus showing a partial response to desmopressin. The results of genetic testing indicated the presence of an arginine vasopressin receptor 2 mutation, a heterozygous missense mutation (p.Val88Met), suggesting inheritance of X-linked nephrogenic diabetes insipidus. This report describes a significant case of symptomatic X-linked nephrogenic diabetes insipidus in a female patient who showed a partial response to desmopressin.

Primary Subcapsular Reflux as an Etiology of Subcapsular Renal Abscess

Herein, we report two rare cases of renal infection. The first case was renal subcapsular urine reflux in a 8-month-old girl with recurrent urinary tract infection and the second was subcapsular abscess in a 14-year-old girl with diabetes, who was successfully treated with percutaneous drainage. It has been suggested that renal subcapsular abscesses could be caused by the direct reflux of urine into the subcapsular space, rather than spread of infection from an existing parenchymal lesion, and that complete recovery can be achieved if percutaneous drainage is performed in a timely manner. We propose primary subcapsular reflux, in which urine directly refluxes upwards into the subcapsular space of the kidney, as one of the mechanisms for development of renal subcapsular abscesses.

An Epidemiologic Study on Hosts and Pathogens of Urinary Tract Infection in Urban Children of Korea (2012–2017)

PURPOSE: We aimed to determine characteristics of host, causative organisms, and antibiotic susceptibility of bacteria in pediatric patients with UTI living in metropolitan area of Korea. METHODS: Retrospective investigation was done for the causative organisms of UTI in 683 pediatric cases treated at Ajou University Hospital from 2012 to 2017. Patients were classified into Escherichia coli and non-E.coli group, where E.coli group was subdivided into ESBL(+) and ESBL(−) groups based on whether the bacteria could produce extended spectrum beta-lactamase (ESBL). Antibiotic susceptibility of the causative organism was also determined. RESULTS: A total of 683 UTIs occurred in 550 patients, of which 463 (67.8%) were first-time infection and 87 (32.2%) were recurrent ones (2–7 recurrences, 2.52 average), and 64.9% were male and 35.1% were female. The most common causative organism was E.coli (77.2%) and ESBL(+) E.coli was found in 126 cases. The susceptibility of E.coli to 3rd or 4th generation cephalosporin was relatively higher than that to ampicillin or amoxicillin/clavulanic acid. ESBL(+) E.coli showed higher resistance rate to 3rd or 4th generation cephalosporin than ESBL(−) E.coli . CONCLUSION: New treatment guideline should be considered due to the incidence of ESBL(+) E.coli increased up to one quarter of UTI cases.

A Case of Henoch-Schönlein Purpura with Fulminant Complications and Its Long-term Outcome

Henoch-Schönlein purpura (HSP) is a systemic vasculitis characterized by purpura, arthritis, abdominal pain, and nephritis. Gastrointestinal involvement can manifest as pain, intussusception, intestinal bleeding, and intestinal perforation. We report a case of fulminant HSP at an age of eight in 1994, with multiple complications of intra-thoracic bleeding, massive intestinal perforation, nephritis, and various skin rashes. The brisk bleeding findings of intestinal on Technetium-99m-labeled red blood cell scan (99mTc RBC scan) were well matched to those of the emergency laparotomy and the resected intestine. The patient's abdominal conditions improved gradually but nodular skin eruptions developed newly apart from improving preexisting lower limb rashes and the urine findings continued abnormal, so skin and kidney biopsy were done for the diagnosis. After cyclosporine therapy, skin eruptions and urine findings returned to normal gradually. On a follow-up after 25 years in 2019, the patient is 33-year-old, healthy without any abnormality on blood chemistries and urine examination.

A Case of Giant Hydronephrosis Hidden by Obesity in an 11-year-old Boy

Giant hydronephrosis (GH) is a rare urological entity and usually presents with more than a liter of fluid in the collecting system. It may mimic a progressive and benign abdominal cystic tumor. We report a case of GH in an 11-year-old obese boy who presented with abdominal distension and dyspnea on exercise. Hydronephrosis was caused by ureteropelvic junction obstruction, with 2,300 mL of fluid in the collecting system. Diagnostic and therapeutic features of this case are discussed, with reference to current literature.

A Case of Giant Hydronephrosis Hidden by Obesity in an 11-year-old Boy

Giant hydronephrosis (GH) is a rare urological entity and usually presents with more than a liter of fluid in the collecting system. It may mimic a progressive and benign abdominal cystic tumor. We report a case of GH in an 11-year-old obese boy who presented with abdominal distension and dyspnea on exercise. Hydronephrosis was caused by ureteropelvic junction obstruction, with 2,300 mL of fluid in the collecting system. Diagnostic and therapeutic features of this case are discussed, with reference to current literature.

A Patient with Henoch-Schönlein Purpura with Intussusception and intractable Nephritis

Henoch-Schönlein purpura (HSP) is the most common vasculitis in children, mainly affecting the small vessels of the skin, joints, gastrointestinal tract, and kidneys. Although most cases of HSP resolve spontaneously without sequelae, serious nephrological and intestinal problems may occur in some cases. We experienced a case of HSP complicated by simultaneous intussusception and nephritis in a 14-year-old boy who developed a sudden abdominal pain and gross hematuria on the 11th day after onset of the disease. Imaging studies revealed intussusception that required emergency laparotomy. Despite treatment with steroid and angiotensin-converting enzyme inhibitors, nephritis and nephrosis progressed for 4 weeks, and renal biopsy was performed to confirm the diagnosis. Cyclosporin A therapy was started, and remission of proteinuria was achieved after 5 months. However, the nephritis recurred and worsened to end-stage renal failure during 15 years of follow-up.

Erratum: Efficacy and Tolerability of Anticholinergics in Korean Children with Overactive Bladder: A Multicenter Retrospective Study

We made a mistake in our recently published article.

Various Renal Manifestations in Children with Tuberous Sclerosis Complex

Tuberous sclerosis complex (TSC) is a genetic disorder that affects multiple organ systems and causes tumors. It is important that physicians are aware of the manifestations of TSC, and that they follow the recommendations for screening and evaluation. Several types of renal abnormalities may develop in individuals with TSC. Individuals with TSC may require ongoing treatment that can be adapted for each arising manifestation of renal disease. Herein, we report 4 patients with TSC who presented with a range of different renal manifestations, including angiomyolipoma, renal cell carcinoma, renal infarction, renal cyst, and nephrolithiasis.

Efficacy and Tolerability of Anticholinergics in Korean Children with Overactive Bladder: A Multicenter Retrospective Study

We investigated the efficacy and tolerability of various anticholinergics in Korean children with non-neurogenic overactive bladder (OAB). A total of 326 children (males:females= 157:169) aged under 18 yr (mean age 7.3+/-2.6 yr) who were diagnosed with OAB from 2008 to 2011 were retrospectively reviewed. The mean duration of OAB symptoms before anticholinergic treatment was 16.9+/-19.0 months. The mean duration of medication was 5.6+/-7.3 months. Urgency urinary incontinence episodes per week decreased from 1.9+/-3.1 to 0.4+/-1.5 times (P<0.001). The median voiding frequency during daytime was decreased from 9.2+/-5.4 to 6.3+/-4.2 times (P<0.001). According to 3-day voiding diaries, the maximum and average bladder capacity were increased from 145.5+/-66.9 to 196.8+/-80.3 mL and from 80.8+/-39.6 to 121.8+/-56.5 mL, respectively (P<0.001). On uroflowmetry, maximum flow rate was increased from 17.6+/-8.4 to 20.5+/-8.2 mL/sec (P<0.001). Adverse effects were reported in 14 (4.3%) children and six children (1.8%) discontinued medication due to adverse effects. Our results indicate that anticholinergics are effective to improve OAB symptoms and tolerability was acceptable without severe complications in children.

Renovascular Hypertension Treated by Renal Artery Embolization

Renovascular hypertension is caused by narrowing of the arteries supplying the kidneys. There are several methods to treat renal artery stenosis, such as medications, percutaneous transluminal renal angioplasty, and atherosclerosis. A boy presented to our hospital with severe hypertension. Computed tomography angiogram revealed severe narrowing of the left renal artery and hypoplastic left kidney. Total renal artery embolizaton was performed to make a complete occlusion of the left renal artery. Follow-up renin and aldosterone levels were gradually decreased. The main advantage of renal artery embolization is that it is minimally invasive compared with extensive surgical procedures. Therefore, renal artery embolization should be considered as an alternative to surgical nephrectomy in pediatric patients with renovascular hypertension.

A Nationwide Epidemiological Study of Nocturnal Enuresis in Korean Adolescents and Adults: Population Based Cross Sectional Study

We performed a nationwide epidemiological study to evaluate the prevalence and characteristics of nocturnal enuresis (NE) in Korean adolescents and adults. A questionnaire was sent via e-mail to 51,073 people aged 16-40 yr by stratified sampling according to age, sex, and region among a 200,000 internet survey panel pool. The questionnaire included following information; presence or absence of NE, frequency of NE, possible risk factors for NE, self-esteem scale score and depression score results, and measures for the treatment of NE. Among the 2,117 responders, 54 (2.6%) had NE (> or =1 enuretic episode within 6 months). Of 54 bedwetters, 9.3% wet > or =1 night per week and 20.5% wet > or =1 per month. The prevalence rates remained relatively stable with no apparent trend of reduction with age. The presence of sleep disturbance, family history, urgency, or urge incontinence increased the probability of NE episode significantly. The self-esteem score was lower (P=0.053) and the depression scale score was higher (P=0.003) in bedwetters compared with non-bedwetters. Overall 2.6% of Korean aged 16-40 yr have NE. The higher rate of urgency and urge incontinence in adolescent and adult enuretics suggests that bladder function has an important role in adolescent and adult NE.

Continuous Renal Replacement Therapy in a 4-year-old Child with Rhabdomyolysis Following Parainfluenza Virus Infection and Hyperammonemia due to Isovaleric Acidemia

Parainfluenza virus infection is one of the causes of fatal rhabdomyolysis. Rhabdomyolysis can be aggravated by mitochondrial fatty acid beta-oxidation disorders during prolonged periods of fasting. Moreover, in patients with late-onset isovaleric acidemia, hyperammonemia may occur following catabolic stress. In the present report, we describe a case of a 4-year-old boy with parainfluenza virus infection and late-onset isovaleric acidemia that rapidly progressed to coma, seizures, and cardiorespiratory collapse. His serum ammonia and creatinine kinase (CK) levels were 385 microMol/L and 23,707 IU/L, respectively. Continuous renal replacement therapy (CRRT) was initiated using continuous venovenous hemodiafiltration, after which the ammonia and CK levels returned to normal. Thus, we recommend the immediate initiation of CRRT in the management of patients with life-threatening rhabdomyolysis and hyperammonemia.

Prevalence of Primary Immunodeficiency in Korea

This study represents the first epidemiological study based on the national registry of primary immunodeficiencies (PID) in Korea. Patient data were collected from 23 major hospitals. A total of 152 patients with PID (under 19 yr of age), who were observed from 2001 to 2005, have been entered in this registry. The period prevalence of PID in Korea in 2005 is 11.25 per million children. The following frequencies were found: antibody deficiencies, 53.3% (n = 81), phagocytic disorders, 28.9% (n = 44); combined immunodeficiencies, 13.2% (n = 20); and T cell deficiencies, 4.6% (n = 7). Congenital agammaglobulinemia (n = 21) and selective IgA deficiency (n = 21) were the most frequently reported antibody deficiency. Other reported deficiencies were common variable immunodeficiencies (n = 16), X-linked agammaglobulinemia (n = 15), IgG subclass deficiency (n = 4). Phagocytic disorder was mostly chronic granulomatous disease. A small number of patients with Wiskott-Aldrich syndrome, hyper-IgE syndrome, and severe combined immunodeficiency were also registered. Overall, the most common first manifestation was pneumonia. This study provides data that permit a more accurate estimation PID patients in Korea.

Characteristics of Patients Who Visit the Emergency Department with Self-Inflicted Injury

During visits to emergency medical facilities, the primary care of and risk identification for individuals who have attempted suicide is considered an important element in suicide prevention. With the ultimate goal of helping to prevent suicide, the aim of the present study was to determine the characteristics of patients with self-inflicted injuries who presented in the emergency department. Patients with self-inflicted injuries who visited 1 of 3 sentinel emergency medical centers from 2007 through 2009 were included in the study. The characteristics, methods, and reasons for suicide attempts were evaluated. Moreover, predictors of severe outcomes were evaluated. A total of 2,996 patients with self-inflicted injuries visited the three centers during a period of 3 yr. The male-to-female suicide ratio was 1:1.38 (P or = 50 age group. The reasons for attempting suicide varied among the age groups. The predictors of severe outcome are male gender, older age, and not having consumed alcohol.

Fulminant and Fatal Multiple Organ Failure in a 12-Year-Old Boy With Mycoplasma pneumoniae Infection

Mycoplasma pneumoniae (Mp) is a unique pathogen that causes not only pulmonary but also extrapulmonary manifestations that must be rapidly diagnosed. A 12-year-old boy, with no relevant medical history, presented with fever, severe epigastric pain, and vomiting. Laboratory findings showed fulminant and cholestatic hepatitis, hemolytic anemia, thrombocytopenia, acute kidney injury, disseminated intravascular coagulopathy, acute myocardial infarction, and rhabdomyolysis. His clinical condition rapidly deteriorated during intubation and continuous renal replacement therapy. Despite intensive treatment, he did not recover. We report a case of fulminant and fatal multiple organ failure in a previously healthy boy with Mp infection, describing the possible pathomechanisms of multiple organ failure involved in the disease.

Thrombotic Microangiopathy during Ganciclovir Treatment for Cytomegalovirus Infection in a Patient with Autologous Hematopoietic Stem Cell Transplantation / 임상소아혈액종양

Thrombotic microangiopathy (TMA) is a known complication of hematopoietic stem cell transplantation (HSCT). Here, we describe a case of TMA after autologous HSCT, which was associated with ganciclovir treatment. A 5-year-old boy presented with Coombs-negative hemolytic anemia, thrombocytopenia, gross hematuria, massive proteinuria, and hypertension during ganciclovir treatment after autologous HSCT. TMA was confirmed by renal biopsy which showed swelling of endothelial cells, occlusion of the glomerular lumina, duplication of glomerular basement membranes, and mesangiolysis. There was complete resolution of TMA in both laboratory and clinical manifestations after ganciclovir cessation only with supportive cares and hydration.

Discordant findings on dimercaptosuccinic acid scintigraphy in children with multi-detector row computed tomography-proven acute pyelonephritis / 소아과

PURPOSE: The diagnosis of acute pyelonephritis (APN) is often difficult, as its clinical and biological manifestations are non-specific in children. If not treated quickly and adequately, however, APN may cause irreversible renal damage, possibly leading to hypertension and chronic renal failure. We were suspecting the diagnostic value of 99mTc-dimercaptosuccinic acid (DMSA) scan by experiences and so compared the results of DMSA scan to those of multi-detector row computed tomography (MDCT). METHODS: We retrospectively selected and analyzed 81 patients who were diagnosed as APN by MDCT during evaluation of their acute abdomen in emergency room and then received DMSA scan also for the diagnostic work-up of APN after admission. We evaluated the results of imaging studies and compared the diagnostic value of each method by age groups, or =2 years (n=36). RESULTS: Among total 81 patients with MDCT-proven APN. DMSA scan was diagnostic only in 55 children (68%), while the remaining 26 children (32%) showed false negative normal findings. These 26 patients were predominantly male with average age of 21 months and most of them, 19 (73.1%) were <2 years of age. CONCLUSION: DMSA scan has obvious limitation compared to MDCT in depicting acute inflammatory lesions of kidney in children with APN, especially in early childhood less than 2 years of age. MDCT showed hidden lesions of APN, those were undetectable through DMSA scan in children.

Reemerging skin disease caused by arthropods II: louse

The aim of this article is to provide guidelines to diagnosis and therapeutics for HLI in Korea. Head lice infestation (HLI) caused by Pediculus humanus capitis is still common in Korean children in spite of an improvement since the 1980s in the country's economic status and the concepts of hygiene. HLI is troublesome and, if not treated, can lead to secondary bacterial infection as a result of scratching of the irritated scalp induced by an inflammatory reaction to injected saliva or anticoagulant. In addition, HLI causes social and psychological problems as well as physical symptoms. Confirmation of the HLI depends on identification of adult lice, nymphs, or viable nits. Nits are more commonly found at the nape of the neck and retroauricular areas. The differential diagnosis includes hair casts, dandruff, and debris by hair spray. Few chemical shampoos such as those containing lindane or pyrethrin are currently available in Korea. Although HLI is an important public health issue in Korea, little information is available on HLI. Medical doctors, school nurses, and teachers should be acquainted with HLI for the successful control of this disease, which is distressing a number of children covertly.

Epigallocatechin-3-gallate inhibits paracrine and autocrine hepatocyte growth factor/scatter factor-induced tumor cell migration and invasion

Aberrant activation of hepatocyte growth factor/scatter factor (HGF/SF) and its receptor, Met, is involved in the development and progression of many human cancers. In the cell-based screening assay, (-)epigallocatechin-3-gallate (EGCG) inhibited HGF/SF-Met signaling as indicated by its inhibitory activity on HGF/SF-induced cell scattering and uPA activation (IC50 = 15.8 microg/ml). Further analysis revealed that EGCG at low doses specifically inhibited HGF/SF-induced tyrosine phosphorylation of Met but not epidermal growth factor (EGF)-induced phosphorylation of EGF receptor (EGFR). On the other hand, high-dose EGCG decreased both Met and EGFR proteins. We also found that EGCG did not act on the intracellular portion of Met receptor tyrosine kinase, i.e., it inhibited InlB-dependent activation of Met but not NGF-induced activation of Trk-Met hybrid receptor. This inhibition decreased HGF-induced migration and invasion by parental or HGF/SF-transfected B16F10 melanoma cells in vitro in either a paracrine or autocrine manner. Furthermore, EGCG inhibited the invasion/metastasis of HGF/SF-transfected B16F10 melanoma cells in mice. Our data suggest the possible use of EGCG in human cancers associated with dysregulated paracrine or autocrine HGF/SF-Met signaling.