Characteristics and predictors of chronic kidney disease in children with myelomeningocele: a nationwide cohort study.

BACKGROUND: Myelomeningocele (MMC) is highly prevalent in developing countries, and MMC-related neurogenic bladder is an important cause of childhood chronic kidney disease (CKD). This nationwide study aimed to evaluate demographic and clinical features of pediatric patients with MMC in Turkey and risk factors associated with CKD stage 5. METHODS: Data from children aged 0-19 years old, living with MMC in 2022, were retrospectively collected from 27 pediatric nephrology centers. Patients > 1 year of age without pre-existing kidney abnormalities were divided into five groups according to eGFR; CKD stages 1-5. Patients on dialysis, kidney transplant recipients, and those with eGFR < 15 ml/min/1.73 m2 but not on kidney replacement therapy at time of study constituted the CKD stage 5 group. RESULTS: A total of 911 (57.8% female) patients were enrolled, most of whom were expectantly managed. Stages 1-4 CKD were found in 34.3%, 4.2%, 4.1%, and 2.4%, respectively. CKD stage 5 was observed in 5.3% of patients at median 13 years old (range 2-18 years). Current age, age at first abnormal DMSA scan, moderate-to-severe trabeculated bladder on US and/or VCUG, and VUR history were independent risk factors for development of CKD stage 5 (OR 0.752; 95%; CI 0.658-0.859; p < 0.001; OR 1.187; 95% CI 1.031-1.367; p = 0.017; OR 10.031; 95% CI 2.210-45.544; p = 0.003; OR 2.722; 95% CI 1.215-6.102; p = 0.015, respectively). Only eight CKD stage 5 patients underwent surgery related to a hostile bladder between 1 and 15 years old. CONCLUSION: MMC-related CKD is common in childhood in Turkey. A proactive approach to neurogenic bladder management and early protective surgery in selected cases where conservative treatment has failed should be implemented to prevent progressive kidney failure in the pediatric MMC population in our country.

Treatment of severe Henoch-Schönlein nephritis: justifying more immunosuppression.

The prognosis of Henoch-Schönlein purpura (HSP) nephritis is more severe than originally thought, with a significant portion progressing to deterioration of renal function in adulthood. Proteinuria adversely affects the outcome. The aim of this study was to evaluate the initial single-center results of a treatment protocol for severe HSP nephritis based on the Heaton classification. Age, gender, clinical features and duration of disease follow-up were assessed. Glomerular filtration rate (GFR), urinalysis and 24-hour urinary protein excretion were analyzed. All patients with severe renal involvement were biopsied and a treatment plan was assigned: Class II received oral steroids, Class III (with crescentic nephritis) received additional oral cyclophosphamide 2 mg/kg/d for 12 weeks, and Classes IV and V received azathioprine for 9 months subsequent to the treatment for Class III. All patients received angiotensin converting enzyme (ACE) inhibitors regardless of their blood pressure values. Eighteen patients presenting with severe HSP nephritis, defined as heavy proteinuria and/or decreased renal function, were evaluated. Based on the renal histology, 5, 10, 1 and 2 of the patients were classified as Classes II, III, IV and V, respectively. At presentation, 7 of the patients had impaired renal function with GFR below 75 ml/min/1.73 m2. With the presented treatment schema, all GFR returned to normal at the end of four years of follow-up. There was no proteinuria in any of the patients; only 8 had microscopic hematuria. This preliminary study suggests a stepwise treatment according to the renal histology. The excellent results with complete disappearance of proteinuria and normal renal function justify the use of the aforementioned immunosuppressive protocol with ACE inhibition. Long-term, multicenter controlled studies are needed to verify our results.

Screening of family members of children with Familial Mediterranean Fever: true-autosomal and pseudo-autosomal inheritance.

OBJECTIVES: Screening of family members of children with Familial Mediterranean Fever (FMF) has been carried out to detect new potential patients and to analyze the type of inheritance other than autosomal recessive. METHODS: Marenostrin encoding fever gene mutational analysis has been performed in 83 subjects - including 19 newly diagnosed children with FMF and their family members. RESULTS: Fourteen additional patients with FMF were diagnosed by screening family members. Pseudo-dominant and true dominant inheritances were detected in two families respectively, while the rest of the patients exhibited autosomal recessive mode of inheritance. CONCLUSION: Screening the family members of newly diagnosed FMF patients provides the opportunity to reveal undiagnosed new cases and to understand the mode of inheritance.