IgA vasculitis with nephritis in children Dyga, Katarzyna; Szczepańska, Maria
Advances in Clinical and Experimental Medicine,
04/2020, Volume:
29, Issue:
4
Journal Article
Peer reviewed
Open access
Immunoglobulin A vasculitis (IgAV), formerly known as Henoch-Schönlein purpura (HSP), is the most common form of systemic vasculitis in children. Although the first case of IgAV was described more ...than 200 years ago, its etiology still remains unclear. Nephrological symptoms are observed in 30-50% of children during the course of the disease, and in up to 91% of cases within 6 weeks of the onset of the first symptoms. Whereas other organ manifestations of IgAV are mostly benign and self-limiting, nephritis may lead to chronic kidney disease (CKD) and end-stage renal disease (ESRD). Appropriate treatment commenced early enough can stop the disease progression. However, even in severe cases there are no evidence-based guidelines, which makes the therapeutic decisions more difficult. In this article, which is the most up-to-date overview regarding IgAV, we discuss the disease's pathogenesis, the clinical forms of renal involvement in the course of the disease, the risk factors for adverse prognosis and treatment options in accordance with current recommendations.
Idiopathic nephrotic syndrome (INS) is a chronic glomerular disease in children, characterized by severe proteinuria, hypoalbuminemia, and/or presence of edema and hyperlipidemia. The pathogenesis, ...however, has not been yet established. The clinical course of the disease is characterized by frequent relapses. Interleukin-15 (IL-15) is a pro-inflammatory cytokine, that apart from its involvement in the immune system, was found to be playing a vital role in various cells' functioning, including renal tissue. It is desirable to look for new predictors of INS. Our study aimed to evaluate IL-15 as a potential marker in the early diagnosis of the disease. The cohort participating in the study consisted of patients hospitalized in Clinical Hospital No. 1 in Zabrze, from December 2019 to December 2021, including study group with INS (
= 30) and control group (
= 44). Results: The concentration of IL-15 in both serum and urine was significantly elevated in patients with INS, compared to healthy controls. The cytokine might serve as a marker of the disease, however, further research on larger study groups is needed.
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Idiopathic nephrotic syndrome (INS) is a chronic disease affecting children in early childhood. It is characterized by proteinuria, hypoalbuminemia, edema and hyperlipidemia. To date, the diagnosis ...is usually established at an advanced stage of proteinuria. Therefore, new methods of early INS detection are desired. This study was designed to assess brain-derived neurotrophic factor (BDNF) as a potential marker in the early diagnosis of INS. The study group included patients with a diagnosis of idiopathic nephrotic syndrome (n = 30) hospitalized in Clinical Hospital No. 1 in Zabrze, from December 2019 to December 2021. Our study shows that serum BDNF concentration decreased and urine BDNF concentration increased in a group of patients with INS, compared with healthy controls. Such outcomes might be related to loss of the BDNF contribution in podocyte structure maintenance. Moreover, we anticipate the role of BDNF in urine protein concentration increase, which could be used as a direct predictor of urine protein fluctuations in clinical practice. Moreover, the ROC curve has also shown that serum BDNF and urine BDNF levels might be useful as an INS marker.
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Idiopathic nephrotic syndrome is the most common chronic glomerular disease in children. Treatment with steroids is usually successful; however, in a small percentage of patients, steroid resistance ...is observed. The most frequent histologic kidney feature of steroid-resistant nephrotic syndrome (SRNS) is focal segmental glomerulosclerosis (FSGS). Genetic testing has become a valuable diagnostic tool in defining the etiology of SRNS, leading to the identification of a genetic cause. The
gene is expressed in various tissues, including kidney cells and the central nervous system (CNS). An association between a mutation in the
gene and an early onset of FSGS has been proposed but is not well described. We present a 17-year-old boy with epilepsy, early mild developmental delay, a low IgG serum level, and proteinuria, secondary to FSGS. A Next-Generation Sequencing (NGS)-based analysis revealed a heterozygous de novo pathogenic variant in the
gene (c.1200C>G, p.Tyr400Ter).
gene sequencing should be considered in individuals with early onset of FSGS, particularly accompanied by symptoms of cortical dysfunction, such as epilepsy and intellectual disability.
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Abstract
Background
Youth drug addiction is a significant social and health problem. Symptoms of the disease include a number of neurological, gastrointestinal and cardiovascular disorders. Possible ...hormonal disorders and dysregulation of the immune system could also occur.
Case presentation
We describe a case of a teenage patient with multiple diseases such as esophagitis, allergic disease, and numerous behavioral disorders leading to: self-injury of the body, suicide attempts by drugs overdosing, and experimentation with various psychoactive substances (morphine, amphetamine, methamphetamine, codeine). She was also diagnosed with bipolar disorder. A few hours before the admission to the ward, the patient had an intravenous injection of drugs. Toxicological tests confirmed the presence of amphetamine, ecstasy and opioids in the blood and urine. Laboratory tests revealed extremely increased inflammatory parameters, leucopenia, increased levels of IgG, IgA and IgE (total) immunoglobulins, low concentration of vitamin D. Bacteriological examinations were negative. General condition of the patient got better very quickly, antibiotic therapy was abandoned on the 4
th
day. It was concluded that the cause of the elevated concentration of acute-phase proteins was most likely caused by intoxication with psychoactive drugs.
Conclusions
The discussed case shows the difficulties of differential diagnosis in a teenage patient struggling with many diseases, who has been abusing drugs for several years. Increased inflammatory parameters in the form of an raised PCT, CRP, NLR, PLR values may be caused by many factors. In adolescents who frequently experiment with psychoactive substances, such cause of these disturbances should also be taken into account.
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Bardet-Biedl Syndrome (BBS) is an autosomal recessive non-motile ciliopathy, caused by mutations in more than twenty genes. Their expression leads to the production of BBSome-building proteins or ...chaperon-like proteins supporting its structure. The prevalence of the disease is estimated at 1: 140,000 – 160,000 of life births. Its main clinical features are retinal dystrophy, polydactyly, obesity, cognitive impairment, hypogonadism, genitourinary malformations, and kidney disease. BBS is characterized by heterogeneous clinical manifestation and the variable onset of signs and symptoms. We present a case series of eight pediatric patients with BBS (6 boys and 2 girls) observed in one clinical center including two pairs of siblings. The patients’ age varies between 2 to 13 years (average age of diagnosis: 22 months). At presentation kidney disorders were observed in seven patients, polydactyly in six patients’ obesity, and psychomotor development delay in two patients. In two patients with kidney disorders, the genetic tests were ordered at the age of 1 and 6 months due to the presence of symptoms suggesting BBS and having an older sibling with the diagnosis of the syndrome. The mutations in the following genes were confirmed: BBS10, MKKS , BBS7/BBS10 , BBS7 , BBS9 . All described patients developed symptoms related to the urinary system and kidney-function impairment. Other most common symptoms are polydactyly and obesity. In one patient the obesity class 3 was diagnosed with multiple metabolic disorders. In six patients the developmental delay was diagnosed. The retinopathy was observed only in one, the oldest patient. Despite having the same mutations (siblings) or having mutations in the same gene, the phenotypes of the patients are different. We aimed to addresses gaps in understanding BBS by comparing our data and existing literature through a narrative review. This research includes longitudinal data and explores genotype-phenotype correlations of children with BBS. BBS exhibits diverse clinical features and genetic mutations, making diagnosis challenging despite defined criteria. Same mutations can result in different phenotypes. Children with constellations of polydactyly and/or kidney disorders and/or early-onset obesity should be managed towards BBS. Early diagnosis is crucial for effective monitoring and intervention to manage the multisystemic dysfunctions associated with BBS.
Tetany is a condition in which serum electrolyte disturbances lead to increased neuronal excitability. We describe a case of life-threatening tetany in a 2.5-year-old boy with Dent’s disease linked ...with the CLCN5 gene. Dent’s disease is a renal tubular disorder characterized by a proximal tubule defect resulting in low-weight proteinuria, hypercalciuria, phosphaturia, impaired urinary acidification, nephrolithiasis/nephrocalcinosis and progressive renal failure. In the presented patient, multiple electrolyte derangements in the form of hyponatremia, hypochloremia, hypokalemia, hypocalcemia, and hypomagnesemia, determined by Dent’s disease, led to the development of diffuse muscle spasm and rhabdomyolysis, which ended with acute hyperthermia and seizures. Although, due to acuity of symptoms sepsis was suspected, the child showed dramatic improvement after the aggressive electrolyte repletion. We emphasize the need for considering tetany in patients with unstable vital signs, muscle cramping and medical conditions underlying electrolyte disorders.
ZAG (zinc-α2-glycoprotein) - adipokine, may participate in the mechanism of malnutrition in chronic kidney disease (CKD) as cachexia factor. The transmembrane protein of the endoplasmic reticulum - ...lipase maturation factor 1 (LMF1) is necessary for the secretion and enzymatic activity of lipases and lowering triglycerides level. The aim of the study was to evaluate these markers - ZAG and LMF1, their potential importance in CKD in children. The study included 59 children and adolescents aged 10.7±5.0 years with CKD. Compared with healthy children, serum and urine ZAG levels were higher in children with CKD. A similar relationship was obtained in the comparison of girls and boys between the above groups. We showed a reduced serum and urine concentration of LMF1 in children with CKD. Additionally, ZAG and LMF1 levels in children below 10 years of age and above 10 were no different. There was also no correlation between these markers and serum creatinine (except negative correlation of urinary ZAG), albumin, cholesterol, triglycerides. LMF1 concentration correlated positively with vitamin D level in dialyzed patients. To conclude, elevated serum ZAG levels in children with CKD document that selective kidney damage results in the rise of ZAG concentration, however the specific role of this marker in malnutrition was not documented. Reduced serum LMF1 concentration in children with CKD, did not correlate with standard parameters used to assess lipid metabolism and severity of CKD. The usefulness of LMF1 as the marker of the lipid metabolism disturbances in children with CKD was not proven.
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IgA-associated vasculitis (IgAV), formerly known as Henoch-Schönlein purpura (HSP) disease, is the most common type of systemic vasculitis observed during developmental age. Available published ...studies associate the outbreak of the disease with streptococci, adenovirus, parvovirus, mycoplasma, respiratory syncytial virus (RSV), and influenza infection in approximately 50% of patients with HSP, while some emerging reports have described a few cases of COVID-19 infection being associated with HSP in both adults and children.
a 7-year-old girl was diagnosed with HSP, fulfilling the four required clinical criteria (palpable purpura and abdominal pain, arthralgia and edema, and periodic renal involvement). Infection with SARS-CoV-2 was confirmed via the presence of IgM and IgG antibodies. The disclosure of the Henoch-Schönlein purpura (HSP) disease was preceded by a mild, symptomatically treated infection of the upper respiratory tract. High levels of inflammatory markers were observed during hospitalization, including leukocytosis, an increased neutrophil count and a high neutrophil-to-lymphocyte ratio (NLR). All of these markers are associated with IgAV gastrointestinal bleeding, which was also associated with rotavirus diarrhea observed in the patient.
This case presented by us and similar cases presented by other authors indicate the possible role of SARS-CoV-2 in the development of HSP, but this assumption requires further research and evidence-based verification.
Brain-derived neurotrophic factor (BDNF) belongs to the family of neurotrophins, which are growth factors with trophic effects on neurons. BDNF is the most widely distributed neurotrophin in the ...central nervous system (CNS) and is highly expressed in the prefrontal cortex (PFC) and hippocampus. Its distribution outside the CNS has also been demonstrated, but most studies have focused on its effects in neuropsychiatric disorders. Despite the advances in medicine in recent decades, neurological and psychiatric diseases are still characterized by high drug resistance. This review focuses on the use of BDNF in the developmental assessment, treatment monitoring, and pharmacotherapy of selected diseases, with a particular emphasis on epilepsy, depression, anorexia, obesity, schizophrenia, and Alzheimer's disease. The limitations of using a molecule with such a wide distribution range and inconsistent method of determination are also highlighted.
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