Growth failure remains a significant problem in children with CKD, being worst in patients with hereditary renal disease. Growth is not improved by standard dialysis, but transplantation has a positive impact on growth in children.
Introduction Congenital nephrotic syndrome (CNF) is manifested at birth or within the first three months of life. The Finnish-type of CNF is caused by the mutation of the NPHS1 gene, which encodes nephrin in the podocyte slit diaphragm. It is a very severe disease, for which immunosuppressive therapy is not advised. Here we describe a patient with CNF who responded to CsA by partial remission. Case outline A girl aged 2.5 months presented with severe non-syndromic steroid-resistant nephrotic syndrome. She needed aggressive support including daily albumin infusions and diuretics. Substitution of vitamin D, thyroxin, and anticoagulants were regularly administered. She was also treated with angiotensin converting enzyme inhibitor, without clear benefits regarding proteinuria. In addition, she received intravenous gamma-globulin replacement therapy and antibiotics during frequent infections. While waiting for the results of genetic analyses and faced with many problems related to daily albumin infusions, infections, and thromboembolic complications, cyclosporine A (CsA) was introduced as an alternative to early nephrectomy and consequent renal failure. The patient responded by partial remission and CsA treatment continued at home without the albumin infusions. After almost five years since the beginning of the treatment, the patient's renal function remains unreduced. Conclusion Our case demonstrates that CsA can induce partial remission in patients with genetic forms of steroid-resistant nephrotic syndrome without influencing the glomerular filtration rate. However, its long-term effect and safety should carefully be monitored.
Introduction: The prevalence of idiopathic hypercalciuria (IH) in healthy pediatric population ranges from 3.0% to 7.0%. There is insufficient data about IH in children with mono-symptomatic enuresis. The aim of this study was to examine calcium excretion in urine (UCa) in patients with primary mono-symptomatic nocturnal enuresis (PMNE). Methods: In patients with PMNE, aged 5 to 17 years, IH was determined in 24-h urine and from second morning spot urine. The completeness of the 24-h urine collections was estimated via measuring 24h-urine creatinine excretion (UCr) of 0.1-0.2 mmol/kg/24h. Results: Sixty patients with PMNE, 32 males and 28 girls, median age of 9 years were enrolled in the study. Only 41.7% patients successfully completed 24 h urine collection. IH, defined as 24-h UCa > 0.1 mmol/kg body weight, was diagnosed in 12% of the patients, while when defined as UCa/UCr > 0.8 mmol/mmol in children 5-7 years and > 0.6 mmol/mmol in those > 7 years, IH was 8.3% and 6.7% from 24h-urine and spot urine, respectively. Conclusion: Children and adolescents with PMNE are in risk of hypercalciuria. Therefore, it is useful to examine 24 hours of urine calcium excretion in these patients.
Introduction: Increased cardiovascular risk in thyroid dysfunction is associated with disorders of lipid and lipoproteins, endothelial dysfunction, metabolic, hormonal, hemodynamic changes and coagulation disorders.Subclinical hypothyroidism is characterized by a supra normal level of TSH with normal levels of thyroid hormones. The correlation between subclinical hypothyroidism of the lipid profile and cardiovascular outcomes remains unclear. Several intervention studies assessed the effect of levothyroxine therapy on the lipid profile of patients with subclinical hypothyroidism and obtained conflicting results.The aim of the research is to determine whether subclinical hypothyroidism is associated with the atherogenic lipid profile and whether these changes are reversible after the introduction of the L-thyroxine replacement therapy.Method: The study included 51 patients over 50 years of age with subclinical hypothyroidism. All the participants were subjected to an examination program which included a detailed anamnesis and physical examination; laboratory tests (total cholesterol, LDL cholesterol, HDL cholesterol, triglycerides, T3, T4, TSH). After eight weeks of levothyroxine therapy, the same laboratory parameters were determined in the patients.Results: Subjects with subclinical hypothyroidism had high average values: TSH (12.77 + 2.78 mIU/ml), total cholesterol (7.55 ± 0.79 mmol/l), LDL cholesterol (5.03 ± 0.61 mmol/l), triglycerides (2.48 ± 1.01 mmol/l); and the average value of HDL cholesterol was within reference values (1.12 ± 0.21 mmol/l). After eight weeks of levothyroxine replacement therapy, there was a statistically significant reduction of average values (p <0.0001): TSH (3.83 ± 1.33 mIU/ml), total cholesterol (6.28 ± 0.96 mmol/l), LDL cholesterol ( 4.03 ± 0.70 mmol/ mmol/l l), triglycerides (1.98 ± 0.87 mmol/l); and the average value of HDL cholesterol increased significantly (p < 0.0001) (1.32 ± 0.22 mmol/l).Conclusion: Subjects with subclinical hypothyroidism have the atherogenic lipid profile which is corrected after the levothyroxine treatment. Subclinical hypothyroidism can be considered a disorder that leads to increased cardiovascular risk.
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