Effect of donor–recipient size mismatch on long-term graft survival in pediatric kidney transplantation: a multicenter cohort study

Donor–recipient size mismatching is commonly occurs in pediatric kidney transplantation (KT). However, its effect on graft survival remains unknown. This study aimed to determine the effect of donor–recipient size mismatch on the long-term survival rate of transplant kidneys in pediatric KT. Methods: A total of 241 pediatric patients who received KT were enrolled. The medical records of all patients were retrospectively reviewed, and the correlation between donor–recipient size mismatch and graft function and long-term graft outcome was analyzed according to donor–recipient size mismatch. Results: Recipients and donors’ mean body weight at the time of KT were 34.31 ± 16.85 and 56.53 ± 16.73 kg, respectively. The mean follow-up duration was 96.49 ± 52.98 months. A significant positive correlation was observed between donor–recipient body weight ratio (DRBWR) or donor–recipient body surface area ratio (DRBSR) and graft function until 1 year after KT. However, this correlation could not be confirmed at the last follow-up. The results of long-term survival analysis using Fine and Gray’s subdistribution hazard model showed no significant difference of the survival rate of the transplant kidney according to DRBWR or DRBSR. Conclusion: Donor–recipient size mismatch in pediatric KT is not an important factor in determining the long-term prognosis of transplant kidneys.

Characteristics of pediatric rhabdomyolysis and the associated risk factors for acute kidney injury: a retrospective multicenter study in Korea

Background@#The clinical features of pediatric rhabdomyolysis differ from those of the adults with rhabdomyolysis; however, multicenter studies are lacking. This study aimed to investigate the characteristics of pediatric rhabdomyolysis and reveal the risk factors for acute kidney injury (AKI) in such cases. @*Methods@#This retrospective study analyzed the medical records of children and adolescents diagnosed with rhabdomyolysis at 23 hospitals in South Korea between January 2007 and December 2016. @*Results@#Among 880 patients, those aged 3 to 5 years old composed the largest subgroup (19.4%), and all age subgroups were predominantly male. The incidence of AKI was 11.3%. Neurological disorders (53%) and infection (44%) were the most common underlying disorder and cause of rhabdomyolysis, respectively. The median age at diagnosis in the AKI subgroup was older than that in the non-AKI subgroup (12.2 years vs. 8.0 years). There were no significant differences in body mass index, myalgia, dark-colored urine, or the number of causal factors between the two AKI-status subgroups. The multivariate logistic regression model indicated that the following factors were independently associated with AKI: multiorgan failure, presence of an underlying disorder, strong positive urine occult blood, increased aspartate aminotransferase and uric acid levels, and reduced calcium levels. @*Conclusions@#Our study revealed characteristic clinical and laboratory features of rhabdomyolysis in a Korean pediatric population and highlighted the risk factors for AKI in these cases. Our findings will contribute to a greater understanding of pediatric rhabdomyolysis and may enable early intervention against rhabdomyolysis-induced AKI.

The First Case of an Infant with Familial A20 Haploinsufficiency in Korea

Haploinsufficiency of A20 (HA20) is a newly described autoinflammatory disease caused by loss-of-function mutations in the TNFAIP3 gene. Clinical phenotypes are heterogenous and resemble Behçet's disease, juvenile idiopathic arthritis, inflammatory bowel disease, or periodic fever syndrome, with symptoms developing at an early age. Here, we report the first case of infantile familial HA20 in Korea, which mimics neonatal lupus erythematosus (NLE). A 2-month-old infant exhibited symptoms including recurrent fever, erythematous rashes, and oral ulcers, with elevated liver enzymes, and tested positive for several autoantibodies, similar to systemic lupus erythematosus (SLE); therefore, she was suspected to have NLE. However, six months after birth, symptoms and autoantibodies persisted. Then, we considered the possibility of other diseases that could cause early onset rashes and abnormal autoantibodies, including autoinflammatory syndrome, monogenic SLE, or complement deficiency, all of which are rare. The detailed family history revealed that her father had recurrent symptoms, including oral and genital ulcers, knee arthralgia, abdominal pain, and diarrhea. These Behcet-like symptoms last for many years since he was a teenager, and he takes medications irregularly only when those are severe, but doesn't want the full-scale treatment. Whole-exome sequencing was conducted to identify a possible genetic disorder, which manifested as pathogenic variant nonsense mutation in the TNFAIP3 gene, leading to HA20. In conclusion, HA20 should be considered in the differential diagnosis of an infant with an early-onset dominantly inherited inflammatory disease that presents with recurrent oral and genital ulcerations and fluctuating autoantibodies. Additionally, it also should be considered in an infant with suspected NLE, whose symptoms and abnormal autoantibodies persist.

Effects of Rituximab Including Long-term Maintenance Therapy in Children with Nephrotic Syndrome in a Single Center of Korea

Rituximab (RTX) is a chimeric monoclonal antibody that inhibits CD20-mediated B-cell proliferation and differentiation. Several studies have examined its use in intractable nephrotic syndrome (NS) with some positive results. However, those studies examined such effects for a short-term period of 1 year, and some patients continued to relapse after a lapse in RTX treatment. Our use of RTX as a maintenance therapy (RTX injection when the CD19 cell count exceeded 100–200/µL before relapse) showed some noticeable efficacy. We used RTX in 19 patients with steroid-dependent NS (SDNS). In 12 patients treated with RTX maintenance therapy, only one relapse occurred. The mean treatment period was 23.4±12.7 months, and the mean number of RTX administrations was 3.9±1.6. The relapse rates were decreased (from 2.68/year to 0.04/year), and the drug-free period also increased (from 22.5 days/year to 357.1 days/year) during maintenance therapy. The other seven patients were treated with one cycle of RTX or additional cycles in case of relapse (non-maintenance therapy). Relapse rates were significantly decreased after RTX treatment (from 1.76/year to 0.96/year, P=0.017). The relapse-free period was 15.55±7.38 (range, 5.3–30.7) months. No severe side effects of RTX were found except for a hypersensitivity reaction such as fever and chills during its infusion. In conclusion, RTX is considered an effective and safe option to reduce the relapse rate by a single- or maintenance-interval therapy in SDNS.

A Rare Case of Unilateral Pleural Effusion in a Pediatric Patient on Chronic Peritoneal Dialysis: Is it a Pleuroperitoneal Leakage?

Non-infectious complications of peritoneal dialysis (PD) are relatively less common than infectious complications but are a potentially serious problem in patients on chronic PD. Here, we present a case of a non-infectious complication of PD in a 13-year-old boy on chronic PD who presented with symptoms such as hypertension, edema, dyspnea, and decreased ultrafiltration. Chest and abdominal radiography showed pleural effusion and migration of the PD catheter tip. Laparoscopic PD catheter reposition was performed because PD catheter malfunction was suspected. However, pleural effusion relapsed whenever the dialysate volume increased. To identify peritoneal leakage, computed tomography (CT) peritoneography was performed, and a defect of the peritoneum in the left lower abdomen with contrast leakage to the left rectus and abdominis muscles was observed. He was treated conservatively by transiently decreasing the volume of night intermittent PD and gradually increasing the volume. At the 2-year follow-up visit, the patient had not experienced similar symptoms. Patients on PD who present with refractory or recurrent pleural effusion that does not respond to therapy should be assessed for the presence of infection, catheter malfunction, and pleuroperitoneal communication. Thoracentesis and CT peritoneography are useful for evaluating pleural effusion, and timely examination is important for identifying the defect or fistula.

Calcified Macroplastique Substance: A Rare Cause of Recurrent Gross Hematuria after Endoscopic Injection

Endoscopic subureteral injection for treatment of vesicoureteral reflux (VUR) is known to be safe and efficient due to its minimal invasive nature. Being non-migratory, non-antigenic, and biocompatible, Macroplastique (Polydimethylsiloxane) is likely to be stable over time. A 5-year-old boy with a past history of subureteral administration of Macroplastique for unilateral Grade V VUR 4 years ago presented with recurrent gross and microscopic hematuria, along with suprapubic pain. On computed tomography (CT) abdomen, calcified material, suspected to be a stone, was visualized in the bladder. On diagnostic cystoscopy, calcification was seen around the orifice site where Macroplastique injection had been performed. We removed the calcific material by Holmium laser. Endoscopic subureteric implantation has several advantages, but nevertheless, vigilance is needed to detect long-term complications, especially in patients with gross or microscopic hematuria.

Clinical Characteristics of Rhabdomyolysis in Children : Single Center Experience

PURPOSE: Rhabdomyolysis is a metabolic disorder in which the content of damaged muscle cells is released into plasma. Its manifestations include asymptomatic, myalgia, gross hematuria, and complications of acute kidney injury. Because of limited data on rhabdomyolysis in children, we performed this study to determine clinical characteristics of rhabdomyolysis in children. METHODS: We retrospectively reviewed the records of patients with rhabdomyolysis who were treated at the Pusan National University Children's hospital from January 2011 to July 2016. The diagnostic criteria were serum myoglobin level of ≥80 ng/mL, exclusive of acute myocardial injury, cardiac arrest, and brain damage. RESULTS: Forty-five patients were enrolled; mean age, 116±68 months. Of these, 35 were boys and 10 were girls. Twenty-six patients experienced myalgia and 12 patients showed gross hematuria. Among these, seven patients initially had both myalgia and gross hematuria. The most common causes of rhabdomyolysis were infection, physical exertion, prolonged seizures, metabolic abnormalities, and drug addiction. Acute kidney injury (AKI) was the most common complication, followed by disseminated intravascular coagulation. Thirty-seven patients improved with sufficient fluid supply but two patients underwent hemodialysis due to deterioration of kidney function. Gross hematuria, positive occult blood test, and positive urine protein were more common in patients with AKI than in those without AKI. CONCLUSIONS: In children, infection was the most common cause of rhabdomyolysis. Most patients recovered by sufficient fluid therapy. However, in severe cases, especially in patients with underlying kidney disease, hemodialysis may be necessary in the present study.

A rare case of multiple pituitary adenomas in an adolescent Cushing disease presenting as a vertebral compression fracture

Cushing disease in children and adolescents, especially with multiple pituitary adenomas (MPAs), is very rare. We report 17-year-old boy with MPAs. He presented with a vertebral compression fracture, weight gain, short stature, headache, and hypertension. On magnetic resonance imaging (MRI), only a left pituitary microadenoma was found. After surgery, transient clinical improvement was observed but headache and hypertension were observed again after 3 months later. Follow-up MRI showed a newly developed right pituitary microadenoma 6 months after the surgery. The need for careful clinical and radiographic follow-up should be emphasized in the search for potential MPAs in patients with persistent Cushing disease.

Acute Combined Central and Peripheral Demyelination in Children: in Comparison with Isolated Demyelinating Disease / 대한소아신경학회지

PURPOSE: This study aimed to describe the clinical characteristics and outcomes of children with acute combined central and peripheral nervous system demyelination (CCPD); and compare with the children of isolated acute central or peripheral nervous system demyelination. METHODS: A retrospective chart review of 145 children with acute demyelinating disease between 2010 and 2015 was undertaken in children with younger than 18 years old. Among these, 96 fulfilled criteria (clinical features and positive neuroimaging or electromyography/nerve conduction studies) for either acute central (group A, n=60, 62.5%) or peripheral (group B, n=30, 31.3%) nervous system demyelination, or a CCPD (group C, n=6, 6.3%). RESULTS: Significant differences among the groups (A vs B vs C) were evident for occurrence of disease between 2013-2015 (45.0% vs 43.3% vs 83.3%; P=0.024), admission to intensive care unit (8.3% vs 26.7% vs 50.0%; P=0.027), length of hospitalization (median, 9.7 vs 12.3 vs 48.3 days; P<0.001), treatment with steroids (88.3% vs 10.0 vs 100.0%; P=0.003), immunoglobulins (13.3% vs 100.0% vs 100.0%; P=0.002) and plasmapheresis (0.0% vs 3.3% vs 50.0%; P=0.037) and severe disability at discharge (3.3% vs 16.7% vs 33.3%; P=0.012). Children of group C showed good response to simultaneous use of immunoglobulin and high-dose corticosteroids and earlier try of plasmapheresis, however, two patients had moderate degree of neurological disability. CONCLUSION: Systemic studies using neuroimaing and electromyography/nerve conduction studies in all patients with demyelinating disease will be necessary to verify the combined or isolated disease, because CCPD might have the poorer outcome than isolated disease.

Characteristics of Language Comprehension in Normal Elderly and the Mild Cognitive Impaired

BACKGROUND: Healthy aging is characterized by declines in language function and it is important to differentiate language comprehension difficulties due to pathological aging (i.e., mild cognitive impairment) from those due to normal aging. The purposes of this study were to review the literature on characteristics of language comprehension in normal elderly and the mild cognitive impaired, and to compare their performances on different language domains. METHODS: A comprehensive literature search identified numerous studies on language comprehension in both groups, and we analyzed them according to each language domain. RESULTS: The results indicated that the normal elderly show more difficulties in the comprehension of grammatically or lexically complex sentences and in text/discourse comprehension than words or simple sentences. Compared to normal elderly, MCI shows significantly lower performance on text/discourse comprehension and other tasks demanding higher cognitive function. In both groups, there are many different factors affecting language comprehension, such as hearing sensitivity, speech rate, literacy, and cognition. CONCLUSIONS: The results may provide insight into useful language comprehension tasks for differential diagnosis between normal aging and MCI. Further research on various compensatory strategies in daily life to facilitate language comprehension for both groups is warranted.

Characteristics of Subjects at Clinical High Risk for Schizophrenia: Natural Follow up Study in 'Seoul Youth Clinic'- Pilot Study / 신경정신의학

OBJECTIVES: The aims of this study were to identify the intake and following process for subjects at high risk of transition to schizophrenia and to examine the neurocognitive, social, and emotional functions of the subjects compared with healthy controls. METHODS: Symptomatic individuals judged at high risk for schizophrenia ('clinical high risk') within Youth Clinic were assessed and followed up. They performed a neurocognitive function test, a social function test and an affective function test. Twenty healthy controls were recruited in this study. RESULTS: Among eighty-two subjects contacted through the Youth clinic, sixteen subjects were judged as the clinical high risk group. Fourteen subjects among the clinical high risk group showed deficits in several domains of neurocognitive functions, such as visual recall memory, verbal short term memory and executive function. Social and affective functions are also impaired in the clinical high risk group compared with healthy controls. Two of 15 subjects (13%) developed a psychotic disorder within 6 months. CONCLUSION: This study illustrates the state of follow-up study for a clinical high risk group. Despite low numbers and short durations, some impairment of several functions in the clinical high risk group suggests possible predictors of psychosis.

Cognition, Emotion and Social Function: Are Vulnerability Markers for Developing Schizophrenia? / 신경정신의학

OBJECTIVES: Vulnerability marker in biological relatives of schizophrenia may be very useful in identifying the propensity for the development of schizophrenia. This study suggests that the relatives at risk for genetically developing schizophrenia have impairments in several domains of cognition, social function and affective function as a vulnerability marker. METHODS: A neurocognitve function test, a social function test and an affective function test were administered to fifteen healthy relatives from families with two or more patients with schizophrenia (geneticallly high risk subjects). Fifteen healthy controls matched for age and gender were recruited in this study. RESULTS: Compared to the control subject, the genetic high risk subjects performed significantly more poorly in the selective attention and recall memory of neurocognitive function. The high risk subjects also had lower scores in independence-performance and independence-competence of the social function test and emotion control of the affective function test. CONCLUSION: Selective attention, recall memory, independence-performance, independence-competence and emotion control ability may be a valuable marker for genetic study of schizophrenia.

A Case of Stevens-Johnson Syndrome Caused by Acetazolamide / 대한피부과학회지

A 53-year-old man having glaucoma treated with acetazolamide. After 7 days, he developed diffuse erythematous papules on both forearms and hands with multiple erosive lesions on his lips and genitalia. In the diagnosis of Stevens-Johnson syndrome, he was treated with systemic prednisolone with no sequale. Acetazolamide, which is a kind of sulfa drug and carbonic anhydrase inhibitor is commonly prediscribed by ophthalmologists. However severe side effects such as Stevens-Johnson syndrome has been overlooked. Moreover, according to recent research, HLA-B59 was known to be detected in Stevens-Johnson syndrome caused by methazolamide, which is analogous to acetazolamide. For these reasons, we emphasized the possibility of adverse drug reaction due to acetazolamide and the need caution about genetic risk factor through HLA typing.

A Case of Follicular Mycosis Fungoides / 대한피부과학회지

A follicular mycosis fungoides(FMF) is an unusual clinical and histological variant of mycosis fungoides(MF), characterized by selective involvement of hair follicles by atypical lymphocytes with folliculotropism. FMF is more refractory to treatment, and has a worse prognosis than classic MF. We report a case of FMF presenting as follicular papules on the left forearm in a 43-year-old man. Histologic findings showed an infiltration of mycosis cells within and around follicles and Pautrier's microabscess in the follicular epithelium without mucinosis.