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 AVPR2 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 AVPR2 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

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

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

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

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 < 0.001). The mean age was 41 yr. Poisoning was the most common method of self-inflicted injury (68.7%) among all age groups. Medication was the primary means of injury in the < 50 age group, and the use of agricultural chemicals was the primary means in the ≥ 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

Partial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome

The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome. Although DiGeorge syndrome is a common genomic disorder on 22q11, CES is quite rare, and there has been no report of Korean CES cases with molecular cytogenetic confirmation. In this study, we present the phenotypic and genetic characteristics of a 3-month-old boy with CES. Clinical findings included micropthalmia, multiple colobomata, and renal and genital anomalies. Cytogenetic analyses showed the presence of a supernumerary marker chromosome, which was identified as a bisatellited and isodicentric chromosome derived from an acrocentric chromosome. The results of array comparative genomic hybridization and fluorescence in situ hybridization studies confirmed the karyotype as 47,XY,+mar.ish idic(22)(q11.1) (D22S43+).arr 22q11.1(15,500,000-15,900,000)x4, resulting in a partial tetrasomy of 22q11.1. To the best of our knowledge, this is the first report in Korea of CES confirmed by cytogenetic and molecular cytogenetic analyses

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

PurposeThe 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).MethodsWe 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, <2 years (n=45) and ≥2 years (n=36).ResultsAmong 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.ConclusionDMSA 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

Search for dark matter produced in association with bottom or top quarks in √s = 13 TeV pp collisions with the ATLAS detector

A search for weakly interacting massive particle dark matter produced in association with bottom or top quarks is presented. Final states containing third-generation quarks and miss- ing transverse momentum are considered. The analysis uses 36.1 fb−1 of proton–proton collision data recorded by the ATLAS experiment at √s = 13 TeV in 2015 and 2016. No significant excess of events above the estimated backgrounds is observed. The results are in- terpreted in the framework of simplified models of spin-0 dark-matter mediators. For colour- neutral spin-0 mediators produced in association with top quarks and decaying into a pair of dark-matter particles, mediator masses below 50 GeV are excluded assuming a dark-matter candidate mass of 1 GeV and unitary couplings. For scalar and pseudoscalar mediators produced in association with bottom quarks, the search sets limits on the production cross- section of 300 times the predicted rate for mediators with masses between 10 and 50 GeV and assuming a dark-matter mass of 1 GeV and unitary coupling. Constraints on colour- charged scalar simplified models are also presented. Assuming a dark-matter particle mass of 35 GeV, mediator particles with mass below 1.1 TeV are excluded for couplings yielding a dark-matter relic density consistent with measurements