• Journal of Genetic Medicine
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• v.17 no.2
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• pp.97-101
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• 2020

The combination of central nervous system abnormalities and renal impairment is a notable characteristic of Galloway-Mowat syndrome (GAMOS), a disease which often accompanies microcephaly, developmental delay, and nephrotic syndrome. Many subtypes exist having various phenotypes and genotypes, and many genetic causes are still being identified. An 18-month-old boy first visited our clinic for seizure, delayed development, and microcephaly. During follow-up visits he developed proteinuria and nephrotic syndrome at the age of 6. Nephrotic syndrome became refractory to treatment. These phenotypes were suggestive of GAMOS. Next generation sequencing was performed for genetic analysis and revealed novel compound heterozygous variants in the WDR4 gene: c.494G>A (p.Arg165Gln) and c.540C>G (p.Ile180Met). This is the first case in Korea of GAMOS involving the WDR4 gene.

• Journal of Korean Neurosurgical Society
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• v.66 no.6
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• pp.735-742
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• 2023

Nephrotic syndrome (NS) is associated with cerebral venous sinus thrombosis (CVST), which is a rare cerebrovascular disorder in children. Systemic anticoagulation with heparin is the standard therapy for CVST, and mechanical thrombectomy (MT) has been described as a salvage treatment for adult anticoagulant refractory CVST, However, it has never been reported in children. We describe a case of MT for refractory CVST in a child with NS. A 13-year-old boy with newly diagnosed NS presented to an emergency department with acute headache. A head computed tomography showed acute thrombus in the superior sagittal sinus, straight sinus and transverse sinus. The child was started on heparin therapy, but clinically deteriorated and became unresponsive. In view of the rapid deterioration of the condition after anticoagulation treatment, the patient received intravascular treatment. Several endovascular technologies, such as stent retriever and large bore suction catheter have been adopted. After endovascular treatment, the patient's neurological condition was improved within 24 hours, and magnetic resonance venography of the head demonstrated that the CVST was reduced. The child recovered with normal neurological function at discharge. This case highlights the importance of considering MT for refractory CVST, and we suggest that MT may be considered for refractory CVST with NS in children.

• Clinical and Experimental Pediatrics
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• v.54 no.8
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• pp.317-321
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• 2011

Children who suffer from steroid-resistant nephrotic syndrome (SRNS) require aggressive treatment to achieve remission. When intravenous high-dose methylprednisolone fails, calcineurin inhibitors, such as cyclosporine and tacrolimus, are used as the first line of treatment. A significant number of patients with SRNS progress to end-stage renal disease if remission is not achieved. For these children, renal replacement therapy can also be problematic; peritoneal dialysis may be accompanied by significant protein loss through the peritoneal membrane, and kidney allograft transplantation may be complicated by recurrence of SRNS. Plasmapheresis and rituximab were initially used for treatment of recurrent SRNS after transplantation; these are now under consideration as rescue therapies for refractory SRNS. Although the prognosis of SRNS is complicated and unfavorable, intensive treatment in the early stages of the disease may achieve remission in more than half of the patients. Therefore, timely referral of pediatric SRNS patients to pediatric nephrology specialists for histological and genetic diagnosis and treatment is highly recommended.

• The Journal of Pediatrics of Korean Medicine
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• v.34 no.3
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• pp.1-17
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• 2020

Objectives The purpose of this study is to analyze clinical studies on effectiveness of herbal medicine in refractory nephrotic syndrome (RNS). Methods We searched the randomized controlled trials (RCTs) with herbal medicine treatment on RNS from the Pubmed, CNKI, OASIS, NDSL, J-stage, and CiNii. The demographic data, duration of illness, intervention, treatment period, outcome, adverse events, and composition of herbal medicine were analyzed for this study. Results 11 RCT studies were selected and analyzed. The children in the control group were given western medicine therapy, and the treatment group was given herbal medicine along with the same western medicine of the control group. The most commonly used herbal medicines were the prescriptions to treat 'Kidney Deficiency with Blood Stasis (腎虛兼瘀血)' which composed of 'Promoting blood circulation (化瘀)', 'Diuresis-inducing (利水)', or 'Heating Yang (溫陽)' medicine based on 'Replenishing Kidney or Spleen (補腎, 補脾)' medicine. In the treatment group, proteinuria and serum lipid was significantly decreased, serum albumin was significantly increased, and total effective rate was significantly higher than the control group. Hypercoagulation and relapse rate was also significantly reduced. Adverse events were significantly lower in the treatment group. Conclusions Herbal medicine treatment on pediatric RNS can be suggested as a new treatment for children who have less response to the conventional therapy. It can also supplement the limitations of the western medicine by reducing adverse events from the steroids and immuno-suppressive agents, and lower the relapse rate as well.

• Childhood Kidney Diseases
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• v.16 no.2
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• pp.138-141
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• 2012

Rituximab, a chimeric anti-CD20 IgG1 monoclonal antibody, has been used as a rescue therapy for steroid-dependent or refractory nephrotic syndrome. However, the adverse effects of rituximab are yet to be investigated. We report a case of a 9-year-old boy with steroid-dependent nephrotic syndrome who developed Kikuchi-Fujimoto disease after several cycles of rituximab therapy. Kikuchi-Fujimoto disease is a benign, self-limited necrotizing histiocytic lymphadenitis of unknown etiology. In the present case, Kikuchi-Fujimoto disease developed when the peripheral blood B-cell count of the patient was at nadir, and the lesion regressed slowly but spontaneously after recovery of the B-cell count. To our knowledge, although the pathologic diagnosis of Kikuchi-Fujimoto disease was unavailable, this is the first report of Kikuchi-Fujimoto disease with clinical diagnosis as a possible adverse effect of rituximab.

• Tuberculosis and Respiratory Diseases
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• v.39 no.3
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• pp.261-265
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• 1992

Pleural effusion due to hepatic cirrhosis and ascites is well known. But rarely a pleural effusion may develop in a cirrhotic patient in the absence of detectable ascites. The differential diagnosis of a right-sided transudative pleural effusion in a patient with chronic liver disease with or without ascites includes congestive heart failure and nephrotic syndrome. These diseases are usually ruled out with standard clinical tests. Patients with hepatic hydrothorax should be treated with fluid restriction, diuretics and the correction of hypoalbuminemia. Patients with severe symptoms due to refractory hepatic hydrothorax might benefit from pleural sclerosis and surgical closure of diaphragmatic defect. We experienced a case of right-sided pleural effusion in liver cirrhosis without ascites.

• Childhood Kidney Diseases
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• v.9 no.1
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• pp.83-90
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• 2005

Focal segmental glomerulosclerosis(FSGS) has been detected in approximately 10% of cases of Idiopathic nephrotic syndrome in children, and exhibits a poor response to initial steroid therapy, as well as a higher rate of progression to chronic renal failure and relapse after kidney transplantation. We describe a case of an eleven year-old boy with steroid-resistant FSGS who exhibited a response to a second trial of cyclosporin h(CsA) therapy. At the age of 26 months, this patient was diagnosed with steroid-resistant FSGS. For 9 years, he had undergone a gauntlet of therapies to induce remission; oral steroids, cyclophosphamide, methylprednisolone(mehyIPd) pulse therapy, CsA, and ibuprofen therapy. Although these therapies failed to induce remission, the patient's renal function remained In the normal range during the nine years of treatment. At the age of ten years, the patient's proteinuria decreased, and complete remission was attained with a second administration of CsA, coupled with a low dose of oral steroids. This patient continues to receive CsA without relapse. Therefore, our major concern involves the possibility of relapse after the discontinuation of CsA therapy Our findings in this case suggest that, in cases of refractory FSGS, if renal insufficiency does not emerge, aggressive therapy for the amelioration of proteinuria should be continuously pursued.

• Childhood Kidney Diseases
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• v.4 no.1
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• pp.17-24
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• 2000

Purpose: MCNS is found in approximately $85\%$ of the idiopathic nephrotic syndrome in children and shows good prognosis with initial steroid therapy. However in FSGS, there is poor prognosis with initial therapy and shows higher rate of progression to chronic renal failure and relapse after kindney transplantation. We have experienced 8 patients who were diagnosed as MCNS on initial renal biopsy and then progressed to FSGS on follow-up biopsy. So we have investigated their clinical course and risk factors for transition of MCNS to FSGS. Methods: We conducted a retrospective study with a review of histopathologic findings and clinical manifestations of 296 cases of MCNS and FSGS that were diagnosed from January 1988 to May 1999. We classified them into 3 groups according to the histopathologic finding; MCNS, FSGS, MCNS progressed to FSGS in follow-up biopsy. Results: The number of children was 296 cases comprising 241 cases($81.4\%$) showing MCNS, 8 cases($2.7\%$) transition group, 47 cases($15.9\%$) FSGS. The mean onset age was $6.0{\pm}2.6$years in MCNS, transition group $8.3{\pm}2.3$years, FSGS $7.2{\pm4.3$years, and the gender (M:F) ratio was 3.7:1 in MCNS, 3:1 in transition group, 1.8:1 in FSGS. Comparing the presence of initial hematuria, hypertension,24 hour urine protein, serum albumin, serum creatinine, there were significant difference between the transition group and the FSGS group in the following points; 24hour urine protein $684:342mg/m^2/hr$(P<0.05), serum albumin 1.92: 2.47g/dL(P<0.05), serum cholesterol 494:343mg/dL(P<0.05). Refractoriness to steroid therapy was 13.3$\%$ in MCNS. $12.5\%$ in transition group, $29.6\%$ in FSGS; significantly higher in FSGS(P<0.05). Immunosuppressant therapy was performed in $58.5\%$ of MCNS, $100\%$ in transition group, $80.8\%$ in FSGS; transition group showed significantly higher .ate(P<0.05) comparing with MCNS. Mean number of relapse and duration from onset to first relapse showed no significance difference between these groups. Conclusion: 249 patients with MCNS have been followed and $3.2\%$ (8 patients) of them has shown change in pathologic diagnosis from MCNS to FSCS. The risk factor for transition could not be found. Our results point to the need for a follow-up biopsy to certify the possibility of transition to FSCS in some MCNS cases with refractory cases to steroid therepy, frequent relapsing cases, or in case of no remission in spite of vigorous immunosuppressant therapy.