Nephrotic syndrome in childhood

Despite fulfilling the criteria for an orphan disease, idiopathic nephrotic syndrome in children is the most frequent glomerular disease in this age group. Nephrotic syndrome is defined by the detection of a high proteinuria (>1g/m(2) body surface area daily) and hypoalbuminemia (<2,5 g/dl). Edema is also mostly present, especially at the first manifestation. Nephrotic syndrome in children is a heterogeneous disease with respect to age of onset, etiology, histological alterations and response to a standard treatment of glucocorticoids. This diversity strongly influences both the differential diagnostic approach and the treatment. As the prognosis of steroid-sensitive nephrotic syndrome with respect to renal function is generally good, not only the efficacy of an immunosuppressive medication but also the side effect profiles of different immunosuppressive regimens should be kept in mind for treatment planning and optimization

Alternatives to steroid treatment of steroid-sensitive nephrotic syndrome in childhood

Background. Despite being an orphan disease, idiopathic nephrotic syndrome in childhood is the most frequent glomerular disease in this age group. Nephrotic syndrome in children is a heterogeneous disease and in order to assess the individual facets of the disease a classification using the following criteria are helpful: etiology, age at onset, histology and responsiveness to initial standard treatment with glucocorticoids. Most important is the differentiation between steroid-sensitive (SSNS) and steroid-resistant nephrotic syndromes (SRNS) because SRNS is a risk factor for developing end-stage renal disease. Conclusion. A high cumulative dosage of glucocorticoids and prolonged intake do not seem to impact on the risk of relapse. In order to avoid short and long-term glucocorticoid-associated side effects alternative treatment options should be kept in mind when planning individual treatment options, especially with mycophenolate mofetil, calcineurin inhibitors and rituximab in patients with frequently relapsing disease. Genetic diagnostics aremandatory in patients with SRNS; however, immunosuppressive treatment in children with genetic forms of nephrotic syndrome rarely leads to remission

Cystinosis. Diagnostics and therapy of a rare multisystem disease with renal focus

Cystinosis is a rare, multisystem lysosomal storage disorder, which is first manifested in early childhood as renal Fanconi syndrome. In Germany, there are approximately 200 patients with this disease and without treatment the disease leads to severe health impairment. Due to the rarity of the disease and the initially unspecific symptoms, a correct diagnosis is often greatly delayed. Without treatment cystinosis often leads to end-stage renal failure, blindness, hypoparathyroidism, diabetesmellitus and rickets. So far no curative therapy is available; however, cystine-depleting therapy with cysteamine has been shown to greatly improve the life expectation and quality of life. An early and consistent cysteamine therapy can reduce the progression of the multiorgan disease, so that most patients now survive childhood and can be transferred into adult care. Consequently, non-adherence often occurring in adolescence and due to the side effects of cysteamine therapy, lead to impaired health of patients with cystinosis during transition to adult medicine. Due to the rarity of the diseasemany nephrologists are not well acquainted with the symptoms of the disease; therefore, continuing education of patients, families and physicians as well as newly structured, integrated care of patients with cystinosis are desirable for a significant improvement in care

Diagnosis and therapy of idiopathic nephrotic syndrome in childhood. Summary of the S2e guideline AWMF registry number 166-001, headed by the German Society for Pediatric Nephrology

The German Society for Pediatric Nephrology (GPN) has issued a guideline for diagnosis and differential diagnosis of the idiopathic nephrotic syndrome and for therapy of the steroid-sensitive nephrotic syndrome (SSNS) in childhood. Children with SSNS usually remain steroid sensitive and have in general a good prognosis even with frequent relapses. Initial manifestations and relapses should be treated with standard steroid therapy according to the current recommendations. Up to 80-90% of patients with SSNS experience relapses, either in the form of infrequent relapses (about 30%) or frequent relapses with or without steroid dependency (30-50%), and up to 15% of patients may become steroid resistant during follow-up. There is a high risk for steroid toxicity in patients with frequent relapses, which increases with duration of therapy and cumulative steroid exposure. Patients with steroid-induced side effects should therefore be treated with steroid-sparing medications. Therapeutic options include cyclosporin A, tacrolimus, mycophenolate mofetil, cyclophosphamide, levamisol, and rituximab. Patients with frequent relapses, steroid-dependent or steroid-resistant NS should be referred to specialized centers for pediatric nephrology. All medications may have serious side effects and complications. Treatment of these patients is demanding and often requires follow-up and immunosuppressive and supportive therapy over many years to prevent long-lasting damage to health