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  • 1
    In: Pediatric Radiology, Springer Science and Business Media LLC
    Materialart: Online-Ressource
    ISSN: 1432-1998
    Sprache: Englisch
    Verlag: Springer Science and Business Media LLC
    Publikationsdatum: 2024
    ZDB Id: 1463007-2
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 2
    In: Scientific Reports, Springer Science and Business Media LLC, Vol. 13, No. 1 ( 2023-04-26)
    Kurzfassung: The genotype–phenotype correlation of the X-linked Alport syndrome (XLAS) has been well elucidated in males, whereas it remains unclear in females. In this multicenter retrospective study, we analyzed the genotype–phenotype correlation in 216 Korean patients (male:female = 130:86) with XLAS between 2000 and 2021. The patients were divided into three groups according to their genotypes: the non-truncating group, the abnormal splicing group, and the truncating group. In male patients, approximately 60% developed kidney failure at the median age of 25.0 years, and kidney survival showed significant differences between the non-truncating and truncating groups ( P   〈  0.001, hazard ratio (HR) 2.8) and splicing and truncating groups ( P  = 0.002, HR 3.1). Sensorineural hearing loss was detected in 65.1% of male patients, while hearing survival periods showed a highly significant difference between the non-truncating and truncating groups ( P   〈  0.001, HR 5.1). In female patients, approximately 20% developed kidney failure at the median age of 50.2 years. The kidney survival was significantly different between the non-truncating and truncating groups ( P  = 0.006, HR 5.7). Our findings support the presence of genotype–phenotype correlation not only in male patients but also in female patients with XLAS.
    Materialart: Online-Ressource
    ISSN: 2045-2322
    Sprache: Englisch
    Verlag: Springer Science and Business Media LLC
    Publikationsdatum: 2023
    ZDB Id: 2615211-3
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 3
    Online-Ressource
    Online-Ressource
    Springer Science and Business Media LLC ; 2020
    In:  Scientific Reports Vol. 10, No. 1 ( 2020-07-01)
    In: Scientific Reports, Springer Science and Business Media LLC, Vol. 10, No. 1 ( 2020-07-01)
    Kurzfassung: The objective of our study was to evaluate the performance of renal contrast-enhanced ultrasound (CEUS) against the 99m-labeled dimercaptosuccinic acid (DMSA) scan and computed tomography (CT) in children for the diagnosis of acute pyelonephritis. We included children who underwent both renal CEUS and the DMSA scan or CT. A total of 33 children (21 males and 12 females, mean age 26 ± 36 months) were included. Using the DMSA scan as the reference standard, the sensitivity, specificity, positive predictive value, and negative predictive value of CEUS was 86.8%, 71.4%, 80.5%, and 80.0%, respectively. When CT was used as the reference standard, the sensitivity, specificity, positive predictive value, and negative predictive value of CEUS was 87.5%, 80.0%, 87.5%, and 80.0%, respectively. The diagnostic accuracy of CEUS for the diagnosis of acute pyelonephritis was 80.3% and 84.6% compared to the DMSA scan and CT, respectively. Inter-observer (kappa = 0.54) and intra-observer agreement (kappa = 0.59) for renal CEUS was moderate. In conclusion, CEUS had good diagnostic accuracy for diagnosing acute pyelonephritis with moderate inter- and intra-observer agreement. As CEUS does not require radiation or sedation, it could play an important role in the future when diagnosing acute pyelonephritis in children.
    Materialart: Online-Ressource
    ISSN: 2045-2322
    Sprache: Englisch
    Verlag: Springer Science and Business Media LLC
    Publikationsdatum: 2020
    ZDB Id: 2615211-3
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 4
    Online-Ressource
    Online-Ressource
    Korean Society of Pediatric Nephrology ; 2021
    In:  Childhood Kidney Diseases Vol. 25, No. 2 ( 2021-12-31), p. 133-139
    In: Childhood Kidney Diseases, Korean Society of Pediatric Nephrology, Vol. 25, No. 2 ( 2021-12-31), p. 133-139
    Kurzfassung: 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.
    Materialart: Online-Ressource
    ISSN: 2384-0242 , 2384-0250
    Sprache: Englisch
    Verlag: Korean Society of Pediatric Nephrology
    Publikationsdatum: 2021
    ZDB Id: 3120915-4
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 5
    Online-Ressource
    Online-Ressource
    Korean Society of Pediatric Nephrology ; 2022
    In:  Childhood Kidney Diseases Vol. 26, No. 2 ( 2022-12-09), p. 107-110
    In: Childhood Kidney Diseases, Korean Society of Pediatric Nephrology, Vol. 26, No. 2 ( 2022-12-09), p. 107-110
    Kurzfassung: 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.
    Materialart: Online-Ressource
    ISSN: 2384-0242 , 2384-0250
    Sprache: Englisch
    Verlag: Korean Society of Pediatric Nephrology
    Publikationsdatum: 2022
    ZDB Id: 3120915-4
    Standort Signatur Einschränkungen Verfügbarkeit
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