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  • 1
    Online Resource
    Online Resource
    Genotype and Phenotype Analyses in Pediatric Patients with HNF1B Mutations
    MDPI AG ; 2020
    In:  Journal of Clinical Medicine Vol. 9, No. 7 ( 2020-07-21), p. 2320-
    Details
    In: Journal of Clinical Medicine, MDPI AG, Vol. 9, No. 7 ( 2020-07-21), p. 2320-
    Abstract: HNF1B mutations, one of the most common causes of congenital anomalies of the kidney and urinary tract, manifest as various renal and extrarenal phenotypes. We analyzed the genotype-phenotype correlations in 14 pediatric patients with HNF1B mutations. Genetic studies revealed total gene deletion in six patients (43%). All patients had bilateral renal abnormalities, primarily multiple renal cysts. Twelve patients exhibited progressive renal functional deterioration, and six of them progressed to kidney failure. The annual reduction in estimated glomerular filtration rate was−2.1 mL/min/1.73 m2. Diabetes developed in five patients (36%), including one patient with new-onset diabetes after transplantation. Neurological deficits were noted in three patients (21%), one with total gene deletion and two with missense mutations. Pancreatic abnormalities were more frequent in patients with missense mutations than in patients with other types of mutations. Genotype showed no significant correlation with renal outcomes or other extrarenal manifestations. The HNF1B scores at the times of onset and genetic diagnosis were 〈 8 in two patients and one patient, respectively. Diagnosis of HNF1B mutations is clinically difficult because of extreme phenotypic variability and incomplete penetrance. Furthermore, some phenotypes develop with age. Therefore, patient age should be taken into consideration to increase the diagnostic rate, because some phenotypes develop with age.
    Type of Medium: Online Resource
    ISSN: 2077-0383
    URL: Article
    DOI: 10.3390/jcm9072320
    Language: English
    Publisher: MDPI AG
    Publication Date: 2020
    detail.hit.zdb_id: 2662592-1
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  • 2
    Online Resource
    Online Resource
    Genotype–phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea
    Springer Science and Business Media LLC ; 2023
    In:  Scientific Reports Vol. 13, No. 1 ( 2023-04-26)
    Details
    In: Scientific Reports, Springer Science and Business Media LLC, Vol. 13, No. 1 ( 2023-04-26)
    Abstract: 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.
    Type of Medium: Online Resource
    ISSN: 2045-2322
    URL: Article
    DOI: 10.1038/s41598-023-34053-7
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
    detail.hit.zdb_id: 2615211-3
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  • 3
    Online Resource
    Online Resource
    Contrast-enhanced voiding urosonography for the diagnosis of vesicoureteral reflux and intrarenal reflux: a comparison of diagnostic performance with fluoroscopic voiding cystourethrography
    Korean Society of Ultrasound in Medicine ; 2021
    In:  Ultrasonography Vol. 40, No. 4 ( 2021-10-01), p. 530-537
    Details
    In: Ultrasonography, Korean Society of Ultrasound in Medicine, Vol. 40, No. 4 ( 2021-10-01), p. 530-537
    Abstract: Purpose: This study evaluated the diagnostic performance of contrast-enhanced voiding urosonography (ce-VUS) using a second-generation ultrasound contrast agent for the diagnosis of vesicoureteral reflux (VUR) and intrarenal reflux (IRR), and compared it with that of standard fluoroscopic voiding cystourethrography (VCUG).Methods: Thirty-two consecutive children from April to October 2019 were included in this study. ce-VUS and VCUG were performed simultaneously by two operators with intravesical infusion of a mixture of ultrasound contrast medium, iodinated contrast medium and water. Two pediatric radiologists independently reviewed the ce-VUS and VCUG images and reported the presence and degree of VUR (grades I-V), and the presence and type of IRR.Results: Twenty-seven of 63 urinary systems showed VUR. Interobserver agreement for VUR grading was very good for both examinations (κ=0.87; 95% confidence interval [CI], 0.82 to 0.92 for ce-VUS and κ=0.92; 95% CI, 0.87 to 0.96 for VCUG). The detection rate of VUR showed no significant difference between the two examinations (P=0.370). Four cases of VUR were missed on ce-VUS, while one case of VUR was missed on VCUG. All four false-negative cases on ce-VUS were grade 1 VUR. The two examinations showed very good agreement regarding VUR grading (κ =0.89; 95% CI, 0.81 to 0.96). IRR was more frequently detected with ce-VUS than with VCUG (10 cases with ce-VUS vs. 3 cases with VCUG, P=0.016).Conclusion: ce-VUS showed very good agreement with VCUG for detecting grade 2 VUR and above, while grade 1 VUR was sometimes missed with ce-VUS. IRR was more frequently detected with ce-VUS than with VCUG.
    Type of Medium: Online Resource
    ISSN: 2288-5919 , 2288-5943
    URL: Article
    DOI: 10.14366/usg.20157
    Language: English
    Publisher: Korean Society of Ultrasound in Medicine
    Publication Date: 2021
    detail.hit.zdb_id: 2775801-1
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  • 4
    Online Resource
    Online Resource
    Case of catastrophic antiphospholipid syndrome presenting as neuroretinitis and vaso-occlusive retinopathy
    Springer Science and Business Media LLC ; 2020
    In:  BMC Ophthalmology Vol. 20, No. 1 ( 2020-12)
    Details
    In: BMC Ophthalmology, Springer Science and Business Media LLC, Vol. 20, No. 1 ( 2020-12)
    Abstract: Ocular involvement in catastrophic antiphospholipid syndrome (CAPS), a rare, life-threatening form of antiphospholipid syndrome (APS) that results in multiorgan failure and a high mortality rate, has rarely been reported. Case presentation A 15-year-old girl presented with sudden vision blurring in both eyes. She had marked optic disc swelling and macular exudates in the right eye and intra-arterial white plaques, a few retinal blot hemorrhages, and a white ischemic retina in the left eye. Systemic examination revealed she had acute kidney injury with thrombotic microangiopathy (TMA), multiple cerebral infarcts, valvular dysfunction, and a high titer of triple aPL. Thus, she was diagnosed with CAPS involving the brain, eyes, heart, and kidneys. Plasma exchange and the administration of glucocorticoids, immunoglobulin, warfarin, and rituximab brought a sustained recovery of the TMA, visual symptoms, and echocardiographic findings. Conclusions Ocular involvement of both vaso-occlusive retinopathy, an APS-related thrombotic microangiopathy, and neuroretinitis, a non-thrombotic microangiopathy, can occur as an initial presentation of CAPS.
    Type of Medium: Online Resource
    ISSN: 1471-2415
    URL: Article
    DOI: 10.1186/s12886-020-01755-9
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2020
    detail.hit.zdb_id: 2050436-6
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  • 5
    Online Resource
    Online Resource
    Rapid Resolution of Atypical Hemolytic Uremic Syndrome by Eculizumab Treatment
    Korean Society of Pediatric Nephrology ; 2020
    In:  Childhood Kidney Diseases Vol. 24, No. 2 ( 2020-10-31), p. 138-142
    Details
    In: Childhood Kidney Diseases, Korean Society of Pediatric Nephrology, Vol. 24, No. 2 ( 2020-10-31), p. 138-142
    Type of Medium: Online Resource
    ISSN: 2384-0242 , 2384-0250
    URL: Article
    DOI: 10.3339/jkspn.2020.24.2.138
    Language: English
    Publisher: Korean Society of Pediatric Nephrology
    Publication Date: 2020
    detail.hit.zdb_id: 3120915-4
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  • 6
    Online Resource
    Online Resource
    Extraskeletal Calcifications in Children with Maintenance Peritoneal Dialysis
    Korean Society of Pediatric Nephrology ; 2021
    In:  Childhood Kidney Diseases Vol. 25, No. 2 ( 2021-12-31), p. 117-121
    Details
    In: Childhood Kidney Diseases, Korean Society of Pediatric Nephrology, Vol. 25, No. 2 ( 2021-12-31), p. 117-121
    Abstract: Chronic kidney disease (CKD)-mineral and bone disorder (CKD-MBD) is a common complication of CKD, often accompanied by extra-skeletal calcification in adult patients. As increased vascular calcification is predicted to increase cardiovascular mortality and morbidity, the revised Kidney Disease: Improving Global Outcomes guidelines recommend avoiding calcium-containing phosphate chelators. However, extra-skeletal calcification is less commonly noticed in pediatric patients. Here, we report our experience of such a complication in pediatric patients receiving maintenance peritoneal dialysis. Extra-skeletal calcification was noticed at the corneas, pelvic cavity, and soft tissues of the lower leg in 4 out of 32 patients on maintenance peritoneal dialysis. These patients experienced the aggravation of extra-skeletal calcifications during peritoneal dialysis, and 2 of them underwent excisional operations. It is required to monitor extra-skeletal calcifications in children on kidney replacement therapy.
    Type of Medium: Online Resource
    ISSN: 2384-0242 , 2384-0250
    URL: Article
    DOI: 10.3339/jkspn.2021.25.2.117
    Language: English
    Publisher: Korean Society of Pediatric Nephrology
    Publication Date: 2021
    detail.hit.zdb_id: 3120915-4
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  • 7
    Online Resource
    Online Resource
    Data_Sheet_1.docx
    Frontiers Media SA ; 2021
    In:  Frontiers in Pediatrics Vol. 9 ( 2021-8-9)
    Details
    In: Frontiers in Pediatrics, Frontiers Media SA, Vol. 9 ( 2021-8-9)
    Abstract: Background: X-linked hypophosphatemia (XLH) is the most frequent form of hypophosphatemic rickets and is caused by mutations in the PHEX gene. We analyzed genotype-phenotype correlations in XLH patients with proven PHEX mutations. Methods: PHEX mutations were detected in 55 out of 81 patients who clinically presented with hypophosphatemic rickets. The patients were grouped into nontruncating ( n = 9) and truncating ( n = 46) mutation groups; their initial presentation as well as long-term clinical findings were evaluated according to these groups. Results: Initial findings, including presenting symptoms, onset age, height standard deviation scores (SDS), and laboratory tests, including serum phosphate level and tubular resorption of phosphate, were not significantly different between the two groups (onset age: nontruncating mutation group, 2.0 years, truncating mutation group, 2.2 years; height SDS: nontruncating mutation group, −1.9, truncating mutation group, −1.7; serum phosphate: nontruncating mutation group, 2.5 mg/dL, truncating mutation group, 2.6 mg/dL). However, at their last follow-up, the serum phosphate level was significantly lower in patients with truncating mutations (nontruncating mutation group: 3.2 mg/dl, truncating mutation group: 2.3 mg/dl; P = 0.006). Additionally, 62.5% of patients with truncating mutations developed nephrocalcinosis at their last follow-up, while none of the patients with nontruncating mutations developed nephrocalcinosis ( P = 0.015). Orthopedic surgery due to bony deformations was performed significantly more often in patients with truncating mutations (52.3 vs. 10.0%, P = 0.019). Conclusion: Although considerable inconsistency exists regarding the correlation of truncating mutations and their disease phenotype in several other studies, we cautiously suggest that there would be genotype-phenotype correlation in some aspects of disease manifestation after long-term follow-up. This information can be used when consulting patients with confirmed XLH regarding their disease prognosis.
    Type of Medium: Online Resource
    ISSN: 2296-2360
    URL: Article
    URL: Article
    DOI: 10.3389/fped.2021.699767
    DOI: 10.3389/fped.2021.699767.s001
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2711999-3
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  • 8
    Online Resource
    Online Resource
    Renal Syndromic Hearing Loss is Common in Childhood-onset Chronic Kidney Disease
    XMLink ; 2020
    In:  Journal of Korean Medical Science Vol. 35, No. 44 ( 2020)
    Details
    In: Journal of Korean Medical Science, XMLink, Vol. 35, No. 44 ( 2020)
    Type of Medium: Online Resource
    ISSN: 1011-8934 , 1598-6357
    URL: Article
    DOI: 10.3346/jkms.2020.35.e364
    Language: English
    Publisher: XMLink
    Publication Date: 2020
    detail.hit.zdb_id: 2056822-8
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  • 9
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    Online Resource
    Clinical Relevance of Fluid Volume Status Assessment by Bioimpedance Spectroscopy in Children Receiving Maintenance Hemodialysis or Peritoneal Dialysis
    MDPI AG ; 2020
    In:  Journal of Clinical Medicine Vol. 10, No. 1 ( 2020-12-28), p. 79-
    Details
    In: Journal of Clinical Medicine, MDPI AG, Vol. 10, No. 1 ( 2020-12-28), p. 79-
    Abstract: Bioimpedance spectroscopy (BIS) is a noninvasive method used to evaluate body fluid volume status in dialysis patients, but reports on its effectiveness in pediatrics are scarce. We investigated the correlation between BIS and clinical characteristics and identified the changes in patients whose dialysis prescription was modified based on BIS. The medical records of children on maintenance dialysis who had undergone BIS between 2017 and 2019 were reviewed. Of the 49 patients, 14 were overhydrated, based on the 〉 15% proportion of overhydration relative to extracellular water (OH/ECW) measured by BIS. Intake of ≥two antihypertensive medications was noted in the majority (85.7%) of children with fluid overload and only in 48.6% of those without fluid overload (p = 0.017). Elevated blood pressure despite medication use was significantly more common in patients with fluid overload than in those without fluid overload (78.6% vs. 45.7%, p = 0.037). Of the 14 overhydrated children, 13 (92.9%) had significant changes in body weight, OH/ECW, the number of antihypertensive drugs, left ventricular end-diastolic diameter, and cardiothoracic ratio after the change in dialysis prescription. BIS is a useful and noninvasive method to assess fluid status in dialysis children. Long-term follow-up and correlation with a more objective clinical indicator of fluid overload is necessary to verify the clinical effectiveness of BIS.
    Type of Medium: Online Resource
    ISSN: 2077-0383
    URL: Article
    DOI: 10.3390/jcm10010079
    Language: English
    Publisher: MDPI AG
    Publication Date: 2020
    detail.hit.zdb_id: 2662592-1
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  • 10
    Online Resource
    Online Resource
    Renal artery stenosis presenting as congenital nephrotic syndrome with hyponatremic hypertensive syndrome in a 2-month-old infant: a case report
    Korean Society of Pediatric Nephrology ; 2023
    In:  Childhood Kidney Diseases Vol. 27, No. 2 ( 2023-12-19), p. 117-120
    Details
    In: Childhood Kidney Diseases, Korean Society of Pediatric Nephrology, Vol. 27, No. 2 ( 2023-12-19), p. 117-120
    Abstract: Here, we present the case of a 2-month-old male infant with hyponatremic hypertensive syndrome resulting from stenosis of the right proximal and mid-renal arteries. The patient exhibited nephrotic-range proteinuria, low serum albumin, increased serum creatinine, and elevated renin and aldosterone levels. Doppler ultrasonography and computed tomography angiography revealed decreased vascular flow in the small right renal artery. Following a successful percutaneous balloon angioplasty, the patient experienced a decrease in blood pressure and normalization of serum electrolyte levels within a few days. However, it took 3 months for the proteinuria to resolve completely. This case is significant as it represents the first reported instance of a neonate presenting with clinical features resembling congenital nephrotic syndrome caused by renal artery stenosis that was successfully treated with percutaneous renal angioplasty.
    Type of Medium: Online Resource
    ISSN: 2384-0242 , 2384-0250
    URL: Article
    DOI: 10.3339/ckd.23.017
    Language: English
    Publisher: Korean Society of Pediatric Nephrology
    Publication Date: 2023
    detail.hit.zdb_id: 3120915-4
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