PURPOSE To report sarcoid-like uveitis with or without tubulointerstitial nephritis (TIN) during ... more PURPOSE To report sarcoid-like uveitis with or without tubulointerstitial nephritis (TIN) during coronavirus disease 2019 (COVID-19) and to discuss diagnostic evaluation and treatment. METHODS Detailed information on the subject's demographics, medical history, ophthalmic examination findings, and laboratory results were obtained from medical records. Fluorescein angiography (FA) and indocyanine green angiography (ICGA) images were evaluated. RESULTS All seven patients aged between 8 and 17 had bilateral granulomatous panuveitis. TIN preceded in four patients. Thorax computed tomography of patient 1 was found to be compatible with COVID-19, patients 2 and 3 were in contact with Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) positive parents, patients 4 and 5 were found to be SARS-CoV-2 PCR positive, and patients 6 and 7 were positive for SARS-CoV-2 IgG antibodies. ICGA revealed hypofluorescent dots in six patients. Intraocular inflammation was controlled with corticosteroid and/or immunomodulatory therapy. Visual acuity was maintained or improved in all. CONCLUSION SARS-CoV-2 infection may be related to sarcoid-like uveitis and acute tubulointerstitial nephritis.
Pierson syndrome is a rare autosomal recessive disorder which is mainly characterized by congenit... more Pierson syndrome is a rare autosomal recessive disorder which is mainly characterized by congenital nephrotic syndrome (CNS), diffuse mesangial sclerosis (DMS) and distinct ocular abnormalities, including microcoria. Most affected children exhibit early onset of chronic renal failure, neurodevelopmental deficits, and blindness. It is caused by a homozygous or compound heterozygous mutation in the gene encoding laminin beta2 (LAMB2) on chromosome 3p21. In this article, we report on a patient with CNS, bilateral megalocornea and microcoria. The patient had developed renal failure at very early postnatal period and died of septic shock. A novel homozygous donor splice mutation (IVS4 + 2T > C) in LAMB2 gene was identified in the patient.
A previously healthy 8-year-old boy was referred to our institution for further evaluation of mac... more A previously healthy 8-year-old boy was referred to our institution for further evaluation of macroscopic hematuria, which was detected by his mother incidentally. Before admission, his mother noticed the coke-colored urine 10 days ago and was treated by a local hospital to diagnose urinary tract infection. Despite this treatment, macroscopic hematuria persisted with no other complaints such as dysuria, urinary frequency, abdominalflank pain, or fever. He had no significant past medical events, no signs of an infection, or underlying trauma. Consanguinity was not present between his parents. His father had been diagnosed with ulcerative colitis. On admission, the results of the physical examination were normal, with no edema and no fever. His height was 121 cm (between 25 and 50th percentile), weight was 21 kg (between 25 and 50th percentile), and blood pressure was 100/60 mmHg. In the emergency department, a complete blood count, biochemical panel, and urinalysis were performed. His baseline creatinine was 0.44 mg/dl 1.5 months ago. Laboratory findings were as follows: Hb, 8.1 g/dl; Htc, 25%; WBC, 8,800 per mm3; Plt, 431,000 per mm3; reticulocytes, 1.7%. The peripheral blood smear disclosed normocytic and hypochromic erythrocytes. Direct Coombs’ test was negative; haptoglobulin level was 3.6 g/l (ref 0.3–2), ESR 160 mm/h, and CRP 67 mg/l (0–5). BUN was 43 mg/dl, creatinine 2.2 mg/dl, Na 138 mmol/l, K 4.2 mmol/l, Ca 8.7 mg/dl, albumin 3.7 g/dl, AST 20 U/l, ALT 9 U/l, and LDH 408 U/l. Urinalysis was notable for dark brown urine, with 3 + blood, 1 + protein, 482 erythrocytes per high-power field (normal range < 5), and seven leukocytes per high-power field (normal range < 5). Examination of urine sediment revealed dysmorphic red cells and red cell casts. The chest X-ray demonstrated no abnormality. Kidney ultrasound confirmed increased sized kidneys with hyperechoic parenchyma. No kidney stones or masses were observed. There was also no hydronephrosis to suggest a distal obstruction to the urinary tract. Based on the laboratory and imaging results, the patient was admitted for further workup. Anti-streptolysin titer, complement levels, and coagulation tests were normal, and antinuclear antibodies (ANA) and anti-dsDNA were negative. Antineutrophil cytoplasmic Ab (ANCA) was sent. Urine, blood, and throat cultures were negative for any evidence of infection. A diagnostic percutaneous kidney biopsy was performed on day 3 of his admission (Figs. 1 and 2).
Background C3 glomerulopathy(C3G) is a complement-mediated disease caused by abnormalities in the... more Background C3 glomerulopathy(C3G) is a complement-mediated disease caused by abnormalities in the alternative complement pathway. Although genetic studies are not required for diagnosis, they are valuable for treatment planning and prognosis prediction. The aim of this study is to investigate the clinical phenotypes, kidney survival, and response to MMF treatment in pediatric C3G patients with and without mutations in complement related genes.Methods Sixty pediatric C3G patients were included, divided into two groups based on complement related gene mutations. Demographic and clinical-pathological findings, treatment modalities, and outcome data were compared, and Kaplan-Meier analysis was performed for kidney survival.Results Out of the 60 patients, 17 had mutations, with the most common mutation in the CH gene (47%). The mean age at diagnosis was significantly higher in the group with mutation (12.9 ± 3.6 vs 11.2 ± 4.1 years p = 0.039). While the patients without mutation were mos...
Background/Aim: Juvenile idiopathic arthritis (JIA) can negatively influence the lives of childre... more Background/Aim: Juvenile idiopathic arthritis (JIA) can negatively influence the lives of children and parents. Because it is a chronic disease, a complete recovery is not expected; additionally, children with JIA and their parents must cope with problems such as chronic pain, physical disability, school absenteeism, and social communication disorders. Children’s quality of life (QoL) may be affected by all these problems. Also, prolonged exposure to stress and failure to cope with stress may cause burnout syndrome in parents. The study aims to evaluate osteoporosis, QoL of children with JIA and the burnout status of caregivers. Methods: In this prospective, cross-sectional study, 30 patients aged 4–18 years, who were followed up for at least 6 months with the diagnosis of JIA, were included. Demographic, clinical, and laboratory characteristics were recorded retrospectively. Daily dietary calcium intake and daily activity levels were questioned. The patients’ bone mineral densities...
PURPOSE To report sarcoid-like uveitis with or without tubulointerstitial nephritis (TIN) during ... more PURPOSE To report sarcoid-like uveitis with or without tubulointerstitial nephritis (TIN) during coronavirus disease 2019 (COVID-19) and to discuss diagnostic evaluation and treatment. METHODS Detailed information on the subject's demographics, medical history, ophthalmic examination findings, and laboratory results were obtained from medical records. Fluorescein angiography (FA) and indocyanine green angiography (ICGA) images were evaluated. RESULTS All seven patients aged between 8 and 17 had bilateral granulomatous panuveitis. TIN preceded in four patients. Thorax computed tomography of patient 1 was found to be compatible with COVID-19, patients 2 and 3 were in contact with Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) positive parents, patients 4 and 5 were found to be SARS-CoV-2 PCR positive, and patients 6 and 7 were positive for SARS-CoV-2 IgG antibodies. ICGA revealed hypofluorescent dots in six patients. Intraocular inflammation was controlled with corticosteroid and/or immunomodulatory therapy. Visual acuity was maintained or improved in all. CONCLUSION SARS-CoV-2 infection may be related to sarcoid-like uveitis and acute tubulointerstitial nephritis.
Pierson syndrome is a rare autosomal recessive disorder which is mainly characterized by congenit... more Pierson syndrome is a rare autosomal recessive disorder which is mainly characterized by congenital nephrotic syndrome (CNS), diffuse mesangial sclerosis (DMS) and distinct ocular abnormalities, including microcoria. Most affected children exhibit early onset of chronic renal failure, neurodevelopmental deficits, and blindness. It is caused by a homozygous or compound heterozygous mutation in the gene encoding laminin beta2 (LAMB2) on chromosome 3p21. In this article, we report on a patient with CNS, bilateral megalocornea and microcoria. The patient had developed renal failure at very early postnatal period and died of septic shock. A novel homozygous donor splice mutation (IVS4 + 2T > C) in LAMB2 gene was identified in the patient.
A previously healthy 8-year-old boy was referred to our institution for further evaluation of mac... more A previously healthy 8-year-old boy was referred to our institution for further evaluation of macroscopic hematuria, which was detected by his mother incidentally. Before admission, his mother noticed the coke-colored urine 10 days ago and was treated by a local hospital to diagnose urinary tract infection. Despite this treatment, macroscopic hematuria persisted with no other complaints such as dysuria, urinary frequency, abdominalflank pain, or fever. He had no significant past medical events, no signs of an infection, or underlying trauma. Consanguinity was not present between his parents. His father had been diagnosed with ulcerative colitis. On admission, the results of the physical examination were normal, with no edema and no fever. His height was 121 cm (between 25 and 50th percentile), weight was 21 kg (between 25 and 50th percentile), and blood pressure was 100/60 mmHg. In the emergency department, a complete blood count, biochemical panel, and urinalysis were performed. His baseline creatinine was 0.44 mg/dl 1.5 months ago. Laboratory findings were as follows: Hb, 8.1 g/dl; Htc, 25%; WBC, 8,800 per mm3; Plt, 431,000 per mm3; reticulocytes, 1.7%. The peripheral blood smear disclosed normocytic and hypochromic erythrocytes. Direct Coombs’ test was negative; haptoglobulin level was 3.6 g/l (ref 0.3–2), ESR 160 mm/h, and CRP 67 mg/l (0–5). BUN was 43 mg/dl, creatinine 2.2 mg/dl, Na 138 mmol/l, K 4.2 mmol/l, Ca 8.7 mg/dl, albumin 3.7 g/dl, AST 20 U/l, ALT 9 U/l, and LDH 408 U/l. Urinalysis was notable for dark brown urine, with 3 + blood, 1 + protein, 482 erythrocytes per high-power field (normal range < 5), and seven leukocytes per high-power field (normal range < 5). Examination of urine sediment revealed dysmorphic red cells and red cell casts. The chest X-ray demonstrated no abnormality. Kidney ultrasound confirmed increased sized kidneys with hyperechoic parenchyma. No kidney stones or masses were observed. There was also no hydronephrosis to suggest a distal obstruction to the urinary tract. Based on the laboratory and imaging results, the patient was admitted for further workup. Anti-streptolysin titer, complement levels, and coagulation tests were normal, and antinuclear antibodies (ANA) and anti-dsDNA were negative. Antineutrophil cytoplasmic Ab (ANCA) was sent. Urine, blood, and throat cultures were negative for any evidence of infection. A diagnostic percutaneous kidney biopsy was performed on day 3 of his admission (Figs. 1 and 2).
Background C3 glomerulopathy(C3G) is a complement-mediated disease caused by abnormalities in the... more Background C3 glomerulopathy(C3G) is a complement-mediated disease caused by abnormalities in the alternative complement pathway. Although genetic studies are not required for diagnosis, they are valuable for treatment planning and prognosis prediction. The aim of this study is to investigate the clinical phenotypes, kidney survival, and response to MMF treatment in pediatric C3G patients with and without mutations in complement related genes.Methods Sixty pediatric C3G patients were included, divided into two groups based on complement related gene mutations. Demographic and clinical-pathological findings, treatment modalities, and outcome data were compared, and Kaplan-Meier analysis was performed for kidney survival.Results Out of the 60 patients, 17 had mutations, with the most common mutation in the CH gene (47%). The mean age at diagnosis was significantly higher in the group with mutation (12.9 ± 3.6 vs 11.2 ± 4.1 years p = 0.039). While the patients without mutation were mos...
Background/Aim: Juvenile idiopathic arthritis (JIA) can negatively influence the lives of childre... more Background/Aim: Juvenile idiopathic arthritis (JIA) can negatively influence the lives of children and parents. Because it is a chronic disease, a complete recovery is not expected; additionally, children with JIA and their parents must cope with problems such as chronic pain, physical disability, school absenteeism, and social communication disorders. Children’s quality of life (QoL) may be affected by all these problems. Also, prolonged exposure to stress and failure to cope with stress may cause burnout syndrome in parents. The study aims to evaluate osteoporosis, QoL of children with JIA and the burnout status of caregivers. Methods: In this prospective, cross-sectional study, 30 patients aged 4–18 years, who were followed up for at least 6 months with the diagnosis of JIA, were included. Demographic, clinical, and laboratory characteristics were recorded retrospectively. Daily dietary calcium intake and daily activity levels were questioned. The patients’ bone mineral densities...
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