Gastric duplication cyst in an infant with Finnish-type congenital nephrotic syndrome: concurrence or coincidence?

Congenital nephrotic syndrome (CNS) is a rare disorder characterized by massive proteinuria and marked edema manifesting in utero or during the first 3 months of life. CNS can be caused by congenital infections, allo-immune maternal disease or due to the genetic defects of podocyte proteins most commonly NPHS1. Here we present a case of Finnish-type congenital nephrotic syndrome along with feeding problems and abdominal distention which was diagnosed during follow-up as a gastric-duplication cyst with a novel mutation in the nephrin gene. CNS feeding problems are attributed mainly to primary disease but in literature there are case reports of patients with CNS and hypertrophic pyloric stenosis. NPHS1 is also expressed in the stomach tissue. Physicians should be aware of this rare extra-renal manifestation or coincidence of this rare disease.

C3 glomerulopathy: experience of a pediatric nephrology center.

Background: C3 glomerulopathy (C3G) is an uncommon disease characterized by the deposition of complement factors in the glomeruli due to overactivation and dysregulation of the alternative pathway of complement.Objectives: This study aimed to describe the clinicopathological features, laboratory testing, clinical course, treatment, and outcomes of pediatric patients with C3G.Patients and Methods: We reviewed retrospectively the laboratory testing, kidney biopsy reports, and clinical features of 18 patients at our hospital from 2007 to 2019.Results: There were 18 cases, and the majority of the patients were girls (61.1%). The mean age at diagnosis was 11.3 ± 3.7 (5-17) years, and nephritic-nephrotic syndrome presentation in patients was more common (11 cases, 61.1%). Hematuria was found in 66.7% of the patients, of which the majority had microscopic hematuria (58.3%). Hypertension was observed in 10 (55.6%) patients. The mean glomerular filtration rate (eGFR) was 95.7 ± 47.3 mL/min/1.73 m2, and 24-h urinary protein excretion was 76.2 ± 48.6 mg/m2/h. Sixteen patients (88.9%) received renin-angiotensin-aldosterone system blockers (RASB), and two of them were taking RASB only. The majority of patients (83.3%) were treated with immunosuppressive therapy. Eculizumab was also given to one of them. At the last follow-up, two patients had levels of less than 60 mL/min/1.73 m2 for eGFR. Seven patients with immunosuppressive treatment achieved complete remission.Conclusion: C3G shows a variable clinical presentation and response to immunosuppressive therapy. In the present study, we observed that the most common presentation was nephritic and/or nephrotic syndrome and partially responded to treatment to RASB and immunosuppressants.

Tocilizumab for juvenile idiopathic arthritis: a single-center case series

ABSTRACT BACKGROUND: Juvenile idiopathic arthritis (JIA) is the commonest chronic rheumatic disease among children. When not treated effectively, JIA can lead to functional disability, due to joint damage, along with long-term morbidities. OBJECTIVES: To describe the use of tocilizumab therapy for 11 patients with polyarticular JIA (pJIA) and systemic JIA (sJIA) who presented inadequate response or were refractory to disease-modifying anti-rheumatic drugs (DMARDs) and/or other biological therapies; and to evaluate its benefits, safety and tolerability. DESIGN AND SETTING: Observational retrospective case series at a tertiary-level training and research hospital. METHODS: We reviewed the medical records of 11 consecutive patients with JIA who received tocilizumab (anti-IL-6) therapy in our pediatric nephrology and rheumatology outpatient clinic. We analyzed their demographic data, clinical and laboratory findings, treatment response and adverse reactions. We determined the efficacy of tocilizumab treatment using the American College of Rheumatology (ACR) pediatric (Pedi) response criteria, including ACR Pedi 30, 50, 70 and 90 scores. We used the Wilcoxon test to compare measurements before and after treatment. RESULTS: Tocilizumab was given to seven patients with sJIA and four with pJIA (one of the pJIA patients was rheumatoid factor-positive). In most patients, we observed improvement of symptoms, absence of articular and extra-articular inflammation and continued inactive disease. ACR Pedi 30, 50 and 70 scores were achieved by 90.9% of the patients. Five patients showed minor side effects, possibly due to use of tocilizumab. CONCLUSIONS: Tocilizumab therapy should be considered for treating patients with diagnoses of pJIA or sJIA who are resistant to non-biological DMARDs and/or other biological therapies.

Tocilizumab for juvenile idiopathic arthritis: a single-center case series.

BACKGROUND: Juvenile idiopathic arthritis (JIA) is the commonest chronic rheumatic disease among children. When not treated effectively, JIA can lead to functional disability, due to joint damage, along with long-term morbidities. OBJECTIVES: To describe the use of tocilizumab therapy for 11 patients with polyarticular JIA (pJIA) and systemic JIA (sJIA) who presented inadequate response or were refractory to disease-modifying anti-rheumatic drugs (DMARDs) and/or other biological therapies; and to evaluate its benefits, safety and tolerability. DESIGN AND SETTING: Observational retrospective case series at a tertiary-level training and research hospital. METHODS: We reviewed the medical records of 11 consecutive patients with JIA who received tocilizumab (anti-IL-6) therapy in our pediatric nephrology and rheumatology outpatient clinic. We analyzed their demographic data, clinical and laboratory findings, treatment response and adverse reactions. We determined the efficacy of tocilizumab treatment using the American College of Rheumatology (ACR) pediatric (Pedi) response criteria, including ACR Pedi 30, 50, 70 and 90 scores. We used the Wilcoxon test to compare measurements before and after treatment. RESULTS: Tocilizumab was given to seven patients with sJIA and four with pJIA (one of the pJIA patients was rheumatoid factor-positive). In most patients, we observed improvement of symptoms, absence of articular and extra-articular inflammation and continued inactive disease. ACR Pedi 30, 50 and 70 scores were achieved by 90.9% of the patients. Five patients showed minor side effects, possibly due to use of tocilizumab. CONCLUSIONS: Tocilizumab therapy should be considered for treating patients with diagnoses of pJIA or sJIA who are resistant to non-biological DMARDs and/or other biological therapies.

Retrospective analysis of simple and stage II renal cysts: Pediatric nephrology point of view.

BACKGROUND: Increased ultrasonography (US) use has been correlated with an increased incidence of pediatric renal cysts. For simple and stage II cysts, the malignancy risk is low in adulthood, no follow up is recommended; but there is no consensus on childhood management. Given that pediatric renal cysts may be manifestations of hereditary cystic diseases, a different approach and follow up should be taken for these patients. Herein we present the clinical characteristics and follow-up data of pediatric patients with simple and stage II renal cysts. METHODS: This cross-sectional study involved 57 children (mean age, 12.44 ± 3.65 years) with simple (n = 35) and stage II cysts (n = 22) who were diagnosed and followed at the present institution for ≥2 years. RESULTS: The median follow-up period was 2.84 years for simple and 3.10 years for stage II cysts. None of the patients developed complications. No change in cyst diameter was detected in 65.7% of simple or in 45.5% of stage II cysts, whereas 13 simple cysts (37.1%) and eight stage II cysts (36.4%) increased in diameter. The diameter change per year was significantly higher in the stage II cysts than in the simple cysts (P = 0.017). Overall, 13 patients (22%) had an estimated glomerular filtration rate <90 mL/min/1.73 m2 , and two patients had hypertension. CONCLUSION: Although the malignancy risk of simple and stage II kidney cysts is low for this age group, potential complications such as renal dysfunction, hypertension and hereditary cystic disease should be closely monitored.