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Antineutrophil cytoplasmic antibody (ANCA)-associated glomerulonephritis requires prompt diagnosis and treatment, since renal function at the time of diagnosis is significantly associated with renal outcomes. Here, we report two pediatric patients with ANCA-positive glomerulonephritis initially presenting with hematuria, mild proteinuria, and normal renal function. The first patient with a high myeloperoxidase-ANCA titer (>134 IU/mL) was diagnosed with rapidly progressive glomerulonephritis based on renal biopsy and treated with immunosuppressive therapy after 10 months of follow-up. The second patient with a low myeloperoxidase-ANCA titer (11 IU/mL) maintained normal kidney function without medication. Two cases showed different clinical course according to ANCA titer.
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Acute kidney injury (AKI) is a common complication in critically ill children. However, the common lack of baseline serum creatinine values affects AKI diagnosis and staging. Several approaches for estimating baseline creatinine values in those patients were evaluated. Methods: This single-center retrospective study enrolled pediatric patients with documented serum creatinine measurements within 3 months before admission and more than two serum creatinine measurements within 7 days after admission to the pediatric intensive care unit of a tertiary care children’s hospital between January 2016 and April 2020. Four different approaches for estimating AKI using serum creatinine measurements were compared: 1) back-calculation using age-adjusted normal reference glomerular filtration rates, 2) age-adjusted normal reference serum creatinine values, 3) minimum values measured within 7 days after admission, and 4) initial values upon admission. Results: The approach using minimum values showed the best agreement with the measured baseline value, with the largest intraclass correlation coefficient (0.623), smallest bias (–0.04), and narrowest limit of agreement interval (1.032). For AKI diagnosis and staging, the minimum values were 80.8% and 76.1% accurate, respectively. The other estimated baseline values underestimated AKI and showed poor agreement with baseline values before admission, with a misclassification rate of up to 42% (p < 0.001). Conclusion: Minimum values of serum creatinine measured within 7 days after hospital admission showed the best agreement with creatinine measured within 3 months before admission, indicating the possibility of using it as a baseline when baseline data are unavailable. Further large-scale studies are required to accurately diagnose AKI in critically ill children.
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Congenital isolated hydronephrosis encompasses a spectrum of physiologic states that spontaneously resolve and pathologic obstruction that necessitates surgical intervention. Distinguishing patients whose condition will resolve, those who will require stringent follow-up, and those who will eventually need surgical intervention present a challenge to clinicians, particularly because no unified guidelines for assessment and follow-up have been established. The recognition of the natural course and prognosis of hydronephrosis and a comprehensive understanding of the currently proposed consensus guidelines may aid in multidisciplinary treatment and in providing proper counseling to caregivers. In this review, we aimed to summarize the literature on the grading systems and management strategies for congenital isolated hydronephrosis.
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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.
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Hyperammonemia is mainly caused by diseases related to liver failure. However, there are also non-hepatic causes of hyperammonemia, such as urinary tract infection (UTI) due to urease-producing organisms. Urease production by these bacteria induces a hydrolysis of urinary urea into ammonia that can cross the urothelial cell membrane and diffuse into blood vessels, leading to hyperammonemia. Delayed diagnosis and treatment of hyperammonemia can lead to lethal encephalopathy that can cause brain damage and life-threatening conditions. In the presence of obstructive uropathy, UTI by urease-producing bacteria can lead to more severe hyperammonemia due to enhanced resorption of ammonia into the systemic circulation. In this report, we present a case of acute severe hyperammonemic encephalopathy leading to brain death due to accumulation of ammonia in blood caused by Morganella morganii UTI in a 10-year-old girl with cloacal anomaly, causing obstructive uropathy even after multiple corrections.
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Background@#Chronic kidney disease (CKD) has a negative impact on growth and development in children and is a risk factor for neurocognitive impairment; however, there is limited research on the cognitive function of children and adolescents with CKD. This study therefore aimed to investigate the mean intelligence and risk factors for low intelligence in children and adolescents with CKD. @*Methods@#Eighty-one patients with CKD under 18 years old were included in the KoreaN cohort study for Outcomes in patients With Pediatric Chronic Kidney Disease (KNOW-Ped CKD). Participants completed either the Wechsler Intelligence Scale for Children (6–16 years), or Wechsler Adult Intelligence Scale (> 16 years). @*Results@#The mean full-scale intelligence quotient (IQ) was 91 ± 19; 24.7% of participants scored a full-scale IQ below 80. Participants with a short stature (height Z scores < −1.88), failure to thrive (weight Z scores < −1.65), more severe CKD stage (≥ IIIb), longer duration of CKD (≥ 5 years), and those who were Medicare or Medicaid beneficiaries, had significantly lower mean full-scale IQs. @*Conclusion@#On linear regression analysis, the association between the full-scale IQ, and longer duration of CKD and growth failure, remained significant after controlling for demographic and clinical variables. It is therefore necessary to investigate cognitive impairment in pediatric patients with CKD who exhibit growth failure or for a longer postmorbid period. It is believed that early interventions, such as kidney transplantation, will have a positive effect on IQ in children with CKD, as the disease negatively affects IQ due to poor glomerular filtration rate over time.
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Background@#Chronic kidney disease (CKD) has a negative impact on growth and development in children and is a risk factor for neurocognitive impairment; however, there is limited research on the cognitive function of children and adolescents with CKD. This study therefore aimed to investigate the mean intelligence and risk factors for low intelligence in children and adolescents with CKD. @*Methods@#Eighty-one patients with CKD under 18 years old were included in the KoreaN cohort study for Outcomes in patients With Pediatric Chronic Kidney Disease (KNOW-Ped CKD). Participants completed either the Wechsler Intelligence Scale for Children (6–16 years), or Wechsler Adult Intelligence Scale (> 16 years). @*Results@#The mean full-scale intelligence quotient (IQ) was 91 ± 19; 24.7% of participants scored a full-scale IQ below 80. Participants with a short stature (height Z scores < −1.88), failure to thrive (weight Z scores < −1.65), more severe CKD stage (≥ IIIb), longer duration of CKD (≥ 5 years), and those who were Medicare or Medicaid beneficiaries, had significantly lower mean full-scale IQs. @*Conclusion@#On linear regression analysis, the association between the full-scale IQ, and longer duration of CKD and growth failure, remained significant after controlling for demographic and clinical variables. It is therefore necessary to investigate cognitive impairment in pediatric patients with CKD who exhibit growth failure or for a longer postmorbid period. It is believed that early interventions, such as kidney transplantation, will have a positive effect on IQ in children with CKD, as the disease negatively affects IQ due to poor glomerular filtration rate over time.
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Objectives@#We aimed to investigate the incidence, manifestations, and outcomes of malignancy after pediatric kidney transplantation (KT) at our center over 30 years. @*Methods@#We retrospectively reviewed the medical records of 155 patients under 18 years of age who underwent KT between January 1990 and February 2020 at Asan Medical Center. @*Results@#Twelve patients (7.7%) were diagnosed with a malignancy after KT. Malignancy was diagnosed after a mean period of 6.4±5.9 years (median 4.6, range 0.5–20.6 years) after KT. Nine (75.0%) of the 12 cancer patients were diagnosed with post-transplant lymphoproliferative disease (PTLD), and the other three had papillary thyroid cancer, mucoepidermoid cancer of the hard palate, and T-cell acute lymphoblastic leukemia, respectively. PTLD was diagnosed within a mean of 3.7±3.4 years (median 3.7, range 0.5–9.8 years) after KT. Five patients diagnosed with PTLD were cured without recurrence. Three patients with PTLD died from the disease, and one patient with mucoepidermoid cancer from a non-PTLD malignancy died after progression, despite surgical resection and chemotherapy. Three (33.3%) of the nine survivors progressed to end-stage renal disease (ESRD) after completing cancer treatment. No patient with post-transplant malignancy (PTM) experienced critical renal deterioration during cancer treatment. @*Conclusion@#PTLD was the most common PTM, occurring at 5.8% of the pediatric KT patients after KT in our center. Careful follow up is needed particularly considering the risk of PTLD after KT in children.
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Pneumocystis pneumonia (PCP) is a rare disease in healthy people but a potentiallyfatal opportunistic infection by Pneumocystis jirovecii in immunocompromisedpatients with organ transplantation. We present three cases of PCP after kidneytransplantation in pediatric patients. First case was a 4-year-old boy diagnosedwith Denys-Drash syndrome and received living-donor kidney transplantationfrom his mother at age of 1. Second case was a 19-year-old male, with polycystickidney disease, who received kidney transplantation from his mother at the age of18. Third case was a 19-year-old female with chronic kidney disease of unknownetiology, who received kidney transplantation from her father at age of 15. Thesethree patients who were on immunosuppressive therapy and completed ofroutine PCP prophylaxis for 6 months had presented with cough and dyspneamore than 1 year after transplantation. Chest x-ray all showed diffuse haziness ofboth lung fields, and bronchoalveolar lavage from bronchoscopy revealed Pneumocystisjirovecii infection. All patients showed clinical resolution with intravenoustrimethoprim-sulfamethoxazole (TMP-SMX) therapy for at least 3 weeks and hadcontinued secondary prophylaxis for another 6–12 months. This report suggeststhat clinicians should have suspicion for the possibilities of opportunistic infectionsuch as PCP after kidney transplantation in children.
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BACKGROUND: Primary hyperoxaluria (PH), a rare inborn error of glyoxylate meta bolism causing overproduction of oxalate, is classified into three genetic subgroups: type 1–3 (PH1–PH3) caused by AGXT, GRHPR , and HOGA1 gene mutations, respectively. We performed a retrospective case series study of Korean pediatric patients with PH.METHODS: In total, 11 unrelated pediatric patients were recruited and their phenotypes and genotypes were analyzed by a retrospective review of their medical records.RESULTS: Mutational analyses revealed biallelic AGXT mutations (PH1) in nine patients and a single heterozygous GRHPR and HOGA1 mutation in one patient each. The c.33dupC was the most common AGXT mutation with an allelic frequency of 44%. The median age of onset was 3 months (range, 2 months-3 years), and eight patients with PH1 presented with end stage renal disease (ESRD). Patients with two truncating mutations showed an earlier age of onset and more frequent retinal involvement than patients with one truncating mutation. Among eight PH1 patients presenting with ESRD, five patients were treated with intensive dialysis followed by liver transplantation (n=5) with/without subsequent kidney transplantation (n=3).CONCLUSION: Most patients presented with severe infantile forms of PH. Patients with two truncating mutations displayed more severe phenotypes than those of patients with one truncating mutation. Sequential liver and kidney transplantation was adopted for PH1 patients presenting with ESRD. A larger nation-wide multicenter study is needed to confirm the genotype-phenotype correlations and outcomes of organ transplantation.
Subject(s)
Humans , Age of Onset , Dialysis , Genetic Association Studies , Genotype , Hydrogen-Ion Concentration , Hyperoxaluria, Primary , Kidney Failure, Chronic , Kidney Transplantation , Liver , Liver Transplantation , Medical Records , Organ Transplantation , Phenotype , Retinaldehyde , Retrospective Studies , TransplantsABSTRACT
Nephrotic syndrome in the first year of life, characterized by renal dysfunction and proteinuria, is associated with a heterogeneous group of disorders. These disorders are often related to genetic mutations, but the syndrome can also be caused by a variety of other diseases. We report an infant with nephrotic syndrome associated with a neuroblastoma. A 6-month-old girl was admitted with a 10% weight loss over 10 days and nephrotic-range proteinuria. She was ill-looking, and her blood pressure was higher than normal for her age. Her cystatin-C glomerular filtration rate was decreased, and levels of plasma renin, aldosterone, and catecholamines were elevated. Renal ultrasonography and abdominal computed tomography showed a retroperitoneal prevertebral mass encasing both renal arteries and the left renal vein. The mass was partially resected laparoscopically, and the pathologic diagnosis was neuroblastoma. Findings on a simultaneous renal biopsy were unremarkable. The patient was treated with chemotherapy and several anti-hypertensive drugs, including an alpha blocker. Two months later, the mass had decreased in size and the proteinuria and hypertension were gradually improving. In an infant with abnormal renin-angiotensin system activation, severe hypertension, and nephrotic-range proteinuria, neuroblastoma can be considered in the differential diagnosis.
Subject(s)
Female , Humans , Infant , Aldosterone , Antihypertensive Agents , Biopsy , Blood Pressure , Catecholamines , Diagnosis , Diagnosis, Differential , Drug Therapy , Glomerular Filtration Rate , Hypertension , Nephrotic Syndrome , Neuroblastoma , Plasma , Proteinuria , Renal Artery , Renal Veins , Renin , Renin-Angiotensin System , Ultrasonography , Weight LossABSTRACT
PURPOSE: To investigate the frequency, presentation, management, and outcome of cytomegalovirus (CMV) infection in pediatric patients who underwent renal transplantation. METHODS: We performed a retrospective chart review of 70 patients under the age of 18, who underwent renal transplantation between January 1990 and November 2014. A diagnosis of CMV infection was based on serology, molecular assays, antigenemia assays, and culture. CMV infection was defined as detection of virus and CMV disease was diagnosed when clinical signs and symptoms were present. RESULTS: The number of patients with CMV infection was 18 (25.7% of renal transplant recipients). Twelve were male (66.7%), and the mean±standard deviation (SD) age at infection was 13.3±3.9 years. Median time of infection after renal transplantation was 4 months (range 1.0-31.0 months). Pretransplantation CMV status in the infected group was as follows: donor (D)+/recipient (R)+, 11 (61.1%); D+/R-, 7 (38.9%); D-/R+, 0; and D-/R- 0. Nine patients had CMV disease with fever, leukopenia, thrombocytopenia, or organ involvement such as enteritis, hepatitis, and pneumonitis. The age of disease occurrence was 13.1±3.9 years and the median time to disease onset after renal transplantation was 8 months (range 1.0-31.0). Immunosuppressive agents were reduced or discontinued in 14 patients (77.8%), antiviral agents were used in 11 patients (61.1%), and all patients with CMV infection were controlled. CONCLUSIONS: A quarter of the patients had CMV infection about 4 months after renal transplantation. CMV infection was successfully treated with reduction of immunosuppressants or with antiviral agents.
Subject(s)
Child , Humans , Male , Antiviral Agents , Cytomegalovirus Infections , Cytomegalovirus , Diagnosis , Enteritis , Fever , Hepatitis , Immunosuppressive Agents , Kidney Transplantation , Leukopenia , Pneumonia , Retrospective Studies , Thrombocytopenia , Tissue Donors , Transplant RecipientsABSTRACT
PURPOSE: To investigate the frequency, presentation, management, and outcome of cytomegalovirus (CMV) infection in pediatric patients who underwent renal transplantation. METHODS: We performed a retrospective chart review of 70 patients under the age of 18, who underwent renal transplantation between January 1990 and November 2014. A diagnosis of CMV infection was based on serology, molecular assays, antigenemia assays, and culture. CMV infection was defined as detection of virus and CMV disease was diagnosed when clinical signs and symptoms were present. RESULTS: The number of patients with CMV infection was 18 (25.7% of renal transplant recipients). Twelve were male (66.7%), and the mean±standard deviation (SD) age at infection was 13.3±3.9 years. Median time of infection after renal transplantation was 4 months (range 1.0-31.0 months). Pretransplantation CMV status in the infected group was as follows: donor (D)+/recipient (R)+, 11 (61.1%); D+/R-, 7 (38.9%); D-/R+, 0; and D-/R- 0. Nine patients had CMV disease with fever, leukopenia, thrombocytopenia, or organ involvement such as enteritis, hepatitis, and pneumonitis. The age of disease occurrence was 13.1±3.9 years and the median time to disease onset after renal transplantation was 8 months (range 1.0-31.0). Immunosuppressive agents were reduced or discontinued in 14 patients (77.8%), antiviral agents were used in 11 patients (61.1%), and all patients with CMV infection were controlled. CONCLUSIONS: A quarter of the patients had CMV infection about 4 months after renal transplantation. CMV infection was successfully treated with reduction of immunosuppressants or with antiviral agents.
Subject(s)
Child , Humans , Male , Antiviral Agents , Cytomegalovirus Infections , Cytomegalovirus , Diagnosis , Enteritis , Fever , Hepatitis , Immunosuppressive Agents , Kidney Transplantation , Leukopenia , Pneumonia , Retrospective Studies , Thrombocytopenia , Tissue Donors , Transplant RecipientsABSTRACT
PURPOSE: Virus-associated rhabdomyolysis is very rare. We report 15 patients with rhabdomyolysis caused by various viruses. METHODS: Fifteen patients who were diagnosed with rhabdomyolysis and a viral infection were included in this study. Clinical, laboratory, and radiologic findings were evaluated through retrospective chart reviews. RESULTS: Chief complaints were severe bilateral lower leg pain and leg weakness. The median age was 5.7 years. The male:female ratio was 2:5. The viral infections were caused by influenza virus B, parainfluenza virus, and rhinovirus. One patient with influenza virus B had coinfection with coronavirus. Median initial laboratory values and ranges were as follows:serum creatinine, 0.4 (0.1-0.5) mg/dL; serum aspartate transaminase, 124 (48-1,098) IU/L; serum alanine transaminase, 30 (16-1,455) IU/L; serum creatine kinase, 2,965 (672-16,594) IU; serum lactate dehydrogenase, 400 (269-7,394) IU/L; serum myoglobin, 644 (314-3,867) ng/mL; urine myoglobin, 3 (3-10,431) ng/mL. All patients recovered without complications. CONCLUSION: This is the first report of the simultaneous occurrence of rhabdomyolysis caused by various viruses. This is also the first report of rhinovirus-associated rhabdomyolysis.
Subject(s)
Child , Humans , Alanine Transaminase , Aspartate Aminotransferases , Coinfection , Coronavirus , Creatine Kinase , Creatinine , Influenza B virus , L-Lactate Dehydrogenase , Leg , Myoglobin , Orthomyxoviridae , Paramyxoviridae Infections , Retrospective Studies , Rhabdomyolysis , RhinovirusABSTRACT
PURPOSE: Virus-associated rhabdomyolysis is very rare. We report 15 patients with rhabdomyolysis caused by various viruses. METHODS: Fifteen patients who were diagnosed with rhabdomyolysis and a viral infection were included in this study. Clinical, laboratory, and radiologic findings were evaluated through retrospective chart reviews. RESULTS: Chief complaints were severe bilateral lower leg pain and leg weakness. The median age was 5.7 years. The male:female ratio was 2:5. The viral infections were caused by influenza virus B, parainfluenza virus, and rhinovirus. One patient with influenza virus B had coinfection with coronavirus. Median initial laboratory values and ranges were as follows:serum creatinine, 0.4 (0.1-0.5) mg/dL; serum aspartate transaminase, 124 (48-1,098) IU/L; serum alanine transaminase, 30 (16-1,455) IU/L; serum creatine kinase, 2,965 (672-16,594) IU; serum lactate dehydrogenase, 400 (269-7,394) IU/L; serum myoglobin, 644 (314-3,867) ng/mL; urine myoglobin, 3 (3-10,431) ng/mL. All patients recovered without complications. CONCLUSION: This is the first report of the simultaneous occurrence of rhabdomyolysis caused by various viruses. This is also the first report of rhinovirus-associated rhabdomyolysis.
Subject(s)
Child , Humans , Alanine Transaminase , Aspartate Aminotransferases , Coinfection , Coronavirus , Creatine Kinase , Creatinine , Influenza B virus , L-Lactate Dehydrogenase , Leg , Myoglobin , Orthomyxoviridae , Paramyxoviridae Infections , Retrospective Studies , Rhabdomyolysis , RhinovirusABSTRACT
Cystinuria is an inherited disorder characterized by defective renal reabsorption of cystine and dibasic amino acids leading to nephrolithiasis. This study was conducted to analyze the genotypes and phenotypes of pediatric patients with cystinuria. Eight children from Seoul National University Hospital and Asan Medical Center presenting with cystinuria from January 2003 to June 2016 were retrospectively analyzed. Mutational studies were performed by direct sequencing. Two of the 8 were male and 6 were female. The median ages at onset and diagnosis were 1.5 (range, 0.3–13.6) and 2.6 (range, 0.7–16.7) years, respectively. The median followed up was 7.7 (range, 3.4–14.0) years. Mutational analyses were performed in 7 patients and revealed biallelic SLC3A1 mutations (AA genotype) in 4 patients, a single heterozygous SLC3A1 mutation (A- genotype) in 1 patient, biallelic SLC7A9 mutations (BB genotype) in 1 patient, and a single heterozygous SLC7A9 mutation (B- genotype) in 1 patient. Two of the mutations were novel. No genotype-phenotype correlations were observed, except for earlier onset age in patients with non-AA genotypes than in patients with the AA genotype. All patients suffered from recurrent attacks of symptomatic nephrolithiasis, which lead to urologic interventions. At the last follow-up, 3 patients had a mild-to-moderate degree of renal dysfunction. This is the first study of genotypic and phenotypic analyses of patients with cystinuria in Korea.
Subject(s)
Child , Female , Humans , Male , Age of Onset , Amino Acids, Diamino , Cystine , Cystinuria , Diagnosis , Follow-Up Studies , Genetic Association Studies , Genotype , Korea , Nephrolithiasis , Phenotype , Renal Reabsorption , Retrospective Studies , SeoulABSTRACT
We aimed to analyze characteristics of encephalopathy after both hematopoietic stem cell and solid organ pediatric transplantation. We retrospectively reviewed medical records of 662 pediatric transplant recipients (201 with liver transplantation [LT], 55 with heart transplantation [HT], and 67 with kidney transplantation [KT], 339 with allogeneic hematopoietic stem cell transplantation [HSCT]) who received their graft organs at Asan Medical Center between January 2000 and July 2014. Of the 662 patients, 50 (7.6%) experienced encephalopathy after transplantation. The incidence of encephalopathy was significantly different according to the type of organ transplant: LT, 16/201 (8.0%), HT, 13/55 (23.6%), KT, 5/67 (7.5%), and HSCT, 16/339 (4.7%) (P < 0.001). Drug-induced encephalopathy (n = 14) was the most common encephalopathy for all transplant types, but particularly after HSCT. Hypertensive encephalopathy was the most common after KT and HT, whereas metabolic encephalopathy was the most common after LT. The median time to encephalopathy onset also differed according to the transplant type: 5 days after KT (range 0–491 days), 10 days after HT (1–296 days), 49.5 days after HSCT (9–1,405 days), and 39 days after LT (1–1,092 days) (P = 0.018). The mortality rate among patients with encephalopathy was 42.0% (n = 21/50). Only 5 patients died of neurologic complications. Transplant-associated encephalopathy presented different characteristics according to the type of transplant. Specialized diagnostic approach for neurologic complications specific to the type of transplant may improve survival and quality of life in children after transplantation.
Subject(s)
Child , Humans , Brain Diseases , Brain Diseases, Metabolic , Heart , Heart Transplantation , Hematopoietic Stem Cell Transplantation , Hematopoietic Stem Cells , Hypertensive Encephalopathy , Incidence , Kidney , Kidney Transplantation , Liver , Liver Transplantation , Medical Records , Mortality , Quality of Life , Retrospective Studies , Transplant Recipients , Transplantation , TransplantsABSTRACT
The elderly population with dementia is rapidly growing in South Korea. The aim of this study was to investigate the relationship between dementia and oral health in 197 subjects aged ≥65 years. The questionnaire included questions on subjective health status, subjective health concern, subjective oral health status and behavior, mastication ability, Oral Health Impact Profile-14 (OHIP-14), and Korean Dementia Screening Questionnaires (KDSQ). Oral examination was conducted by a single dentist to evaluate upper or lower denture use, and determine the numbers of remaining and functioning teeth, including implant and fixed prosthesis. The subjects who required a dementia test (KDSQ-C [cognition] of ≥6) had significant differences in systemic disease prevalence rate, subjective health status, subjective health concern, KDSQ-V (vascular disease) score, KDSQ-D (depression) score, subjective oral treatment need, key food mastication ability and OHIP-14 score compared to the healthy subjects. The proportion of denture wearers, total remaining teeth, total functioning teeth, toothbrushing frequency, oral pain severity, symptoms of periodontal disease, subjective oral health status, and subjective oral health concern showed no significant differences between the two groups. KDSQ-C and OHIP-14 scores showed a strong positive relationship, while KDSQ-C score and total remaining teeth or key food mastication ability showed a weak negative relationship. In the multiple regression analysis, the KDSQ-D, KDSQ-V, and OHIP-14 scores influenced the KDSQ-C scores. We suggest a relationship between oral health and cognitive impairment.
Subject(s)
Aged , Humans , Cognition Disorders , Dementia , Dental Restoration Wear , Dentists , Dentures , Depression , Diagnosis, Oral , Diagnostic Self Evaluation , Healthy Volunteers , Korea , Mass Screening , Mastication , Oral Health , Periodontal Diseases , Prevalence , Prostheses and Implants , Quality of Life , Tooth , ToothbrushingABSTRACT
Atypical hemolytic uremic syndrome (aHUS) is a rare syndrome characterized by micro-angiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. The major pathogenesis of aHUS involves dysregulation of the complement system. Eculizumab, which blocks complement C5 activation, has recently been proven as an effective agent. Delayed diagnosis and treatment of aHUS can cause death or end-stage renal disease. Therefore, a diagnosis that differentiates aHUS from other forms of thrombotic microangiopathy is very important for appropriate management. These guidelines aim to offer recommendations for the diagnosis and treatment of patients with aHUS in Korea. The guidelines have largely been adopted from the current guidelines due to the lack of evidence concerning the Korean population.
Subject(s)
Humans , Acute Kidney Injury , Anemia, Hemolytic , Atypical Hemolytic Uremic Syndrome , Complement C5 , Complement System Proteins , Delayed Diagnosis , Diagnosis , Kidney Failure, Chronic , Korea , Thrombocytopenia , Thrombotic MicroangiopathiesABSTRACT
Nephronophthisis-related ciliopathy (NPHP-RC) is a common genetic cause of end-stage renal failure during childhood and adolescence and exhibits an autosomal recessive pattern of inheritance. Genetic diagnosis is quite limited owing to genetic heterogeneity in NPHP-RC. We designed a novel approach involving the step-wise screening of Sanger sequencing and targeted exome sequencing for the genetic diagnosis of 55 patients with NPHP-RC. First, five NPHP-RC genes were analyzed by Sanger sequencing in phenotypically classified patients. Known pathogenic mutations were identified in 12 patients (21.8%); homozygous deletions of NPHP1 in 4 juvenile nephronophthisis patients, IQCB1/NPHP5 mutations in 3 Senior–Løken syndrome patients, a CEP290/NPHP6 mutation in 1 Joubert syndrome patient, and TMEM67/MKS3 mutations in 4 Joubert syndrome patients with liver involvement. In the remaining undiagnosed patients, we applied targeted exome sequencing of 34 ciliopathy-related genes to detect known pathogenic mutations in 7 (16.3%) of 43 patients. Another 18 likely damaging heterozygous variants were identified in 13 NPHP-RC genes in 18 patients. In this study, we report a variety of pathogenic and candidate mutations identified in 55 patients with NPHP-RC in Korea using a step-wise application of two genetic tests. These results support the clinical utility of targeted exome sequencing to resolve the issue of allelic and genetic heterogeneity in NPHP-RC.