Previous reports provided recommendations for familial renal glucosuria diagnosis without complex view on differential diagnosis of glucosuria. The aim of this review was to provide an overview of the causes of glucosuria and to create an evidence-based diagnostic approach for children with glucosuria. We searched the current literature with a focus to identify the possible etiology of glucosuria, gaining insight into the pathophysiology of glucosuria. Urinary glucose is completely reabsorbed in the proximal tubule of kidneys. It only appears in the urine if the plasma glucose concentration exceeds the renal threshold for glucose or in the case of insufficient renal glucose reabsorption. The proteins that provide glucose reabsorption are SGLT2 and SGLT1 - sodium-dependent co-transporters that transport glucose from the lumen into epithelial cells - and GLUT2 - a passive transporter providing facilitative glucose transport from epithelial cells to plasma. Renal glucose reabsorption is affected in case of acquired or inherited complex dysfunction of proximal tubule called Fanconi Syndrome or due to pathogenic variants of genes encoding glucose transporters. Prior to diagnosing any of these, diabetes mellitus must be excluded together with other conditions leading to hyperglycemia. In conclusion, glucosuria is always an abnormal finding. The review provides a simple evidence-based diagnostic approach to navigate the differential diagnosis of glucosuria.
- MeSH
- diferenciální diagnóza MeSH
- dítě MeSH
- Fanconiho syndrom diagnóza komplikace MeSH
- glukosa * metabolismus MeSH
- glykosurie * diagnóza etiologie MeSH
- lidé MeSH
- přenašeč glukosy typ 2 metabolismus MeSH
- proximální tubuly ledvin metabolismus MeSH
- renální glykosurie * diagnóza etiologie patofyziologie MeSH
- transportér 1 pro sodík a glukosu metabolismus MeSH
- transportér 2 pro sodík a glukózu metabolismus MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Akútna pyelonefritída patrí medzi časté bakteriálne infekcie v detskom veku. pre pediatrov je obávanou infekciou pre riziko vzniku akútnych komplikácií ako urosepsa alebo neskorých komplikácii ako chronická obličková choroba a hypertenzia. správny manažment detských pacientov s akútnou pyelonefritídou významne redukuje riziko vzniku možných komplikácií a preto mu v dnešnej dobe venujeme zvýšenú pozornosť.
Acute pyelonephritis is a common bacterial infection in childhood. it is a concerning infection for pediatricians due to the risk of acute complications, such as urosepsis, or long-term complications, like chronic kidney disease and hypertension. proper management of pediatric patients with acute pyelonephritis significantly reduces the risk of potential complications, which is why it receives increased attention today.
- MeSH
- antibakteriální látky farmakologie terapeutické užití MeSH
- cefalosporiny druhé generace farmakologie terapeutické užití MeSH
- diagnostické zobrazování metody MeSH
- dítě * MeSH
- infekce močového ústrojí etiologie farmakoterapie MeSH
- lidé MeSH
- pyelonefritida * diagnóza etiologie farmakoterapie MeSH
- Check Tag
- dítě * MeSH
- lidé MeSH
BACKGROUND: Genetic nephrotic syndrome is caused by pathogenic variants in genes encoding proteins necessary for the stability and functionality of the glomerular filtration barrier. To date, more than 70 genes associated with steroid-resistant nephrotic syndrome have been identified. We review the clinical and molecular aspects of genetic nephrotic syndrome with a particular focus on genes associated with slit membrane and podocyte cytoskeleton defects. Sanger sequencing and next-generation sequencing are widely used in the identification of novel gene variants and help us gain a better understanding of the disease. Despite these findings, therapy is mainly supportive and focused on the reduction of proteinuria and management of chronic kidney disease with an unfavorable outcome for a significant proportion of cases. Positive therapeutic effects of immunosuppressive drugs have been reported in some patients; however, their long-time administration cannot be generally recommended. CONCLUSION: Personalized treatment based on understanding the distinct disease pathogenesis is needed. With this, it will be possible to avoid harmful immunosuppressive therapy and improve outcomes and quality of life for pediatric patients suffering from genetic nephrotic syndrome.
- MeSH
- cytoskelet metabolismus patologie MeSH
- dítě MeSH
- glomerulus patologie MeSH
- kvalita života MeSH
- lidé MeSH
- nefrotický syndrom * etiologie MeSH
- nemoci ledvin * patologie MeSH
- podocyty * metabolismus MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
AIM: The aim of this review is to provide clinicians with characteristics of children with nephrotic syndrome and cerebral sinovenous thrombosis (CSVT). METHODS: We have reviewed 37 articles of pediatric cases and provided 1 new case. PRISMA guidelines were followed. RESULTS: Sixty-two patients were included in the review. CSVT was more common in males, usually occurred within 6 months of nephrotic syndrome onset and was found more often in outpatients. The superior sagittal sinus was the most common sinus affected. Non-contrast computed tomography was the most frequent radiologic study performed, with 30% of results negative for CSVT. Headache and vomiting were the most common symptoms while neurologic symptoms were less frequent. Anticoagulation treatment was strongly inconsistent throughout the literature. Thrombosis outcomes were favorable. The most common possible risk factors were corticosteroid treatment, proteinuria and hypoalbuminemia. Four children had a genetic predisposition diagnosed after thrombosis. No markers for anticoagulation prophylaxis seemed to be relevant for the majority of thrombosis occurring in outpatients. CONCLUSION: Prophylactic anticoagulation does not seem reasonable to prevent CSVT. Knowledge of nonspecific symptoms and of nephrotic syndrome being a state of hypercoagulation and early use of appropriate radiologic study seem to be of major importance.
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
RATIONALE: The manuscript aimed to show that an unmeasurable capillary C-reactive protein (CRP) should be a red flag that can indicate a possible severe hematological pathology. PATIENTS CONCERNS AND DIAGNOSES: The authors present 3 case reports of children with fever examined at the pediatric emergency department. Fever is among the most frequently exhibited symptoms of acute pediatric infectious diseases. However, sometimes fever can be the manifestation of other serious noninfectious diseases. CRP is a marker widely used in clinical pediatric practice to help us evaluate inflammation and possible bacterial infection. All mentioned patients had unmeasurable CRP from capillary blood, even though venous CRP ranged from 14 to 21 mg/L. All of the patients were consequently diagnosed with severe hemato-oncological disease. Possible explanations are that a change in blood viscosity or an elevation of circulating immune complexes in the blood of patients with leukemia leads to malfunctioning immunoturbidimetry measurement. LESSON: Although these findings are very interesting and could lead to faster recognition of acute leukemia in pediatric clinical practice, further prospective study is needed for their confirmation.
- MeSH
- bakteriální infekce * diagnóza MeSH
- C-reaktivní protein analýza MeSH
- dítě MeSH
- horečka etiologie MeSH
- leukemie * komplikace MeSH
- lidé MeSH
- prospektivní studie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
Mikrobióm je komplexný ekosystém všetkých baktérií, vírusov, húb a iných mikroorganizmov, ktoré osídľujú povrchy a sliznice ľudského tela. Medzi mikrobiómom a našim telom existuje špecifický symbiotický vzťah, z ktorého môžu profitovať obe strany. Odchýlky od normálneho zloženia mikrobiómu však môžu spôsobiť viaceré patologické stavy. Obličky a črevný mikrobióm tvoria rôzne molekuly, prostredníctvom ktorých môžu ovplyvňovať svoju funkciu v pozitívnom aj negatívnom zmysle. Sú moč a sliznice močových ciest u človeka naozaj sterilné, ako to predpokladal the Human Microbiome project? Existuje vzťah medzi zložením črevného mikrobiómu a rizikom vzniku infekcií močových ciest u detí? Liečba fekálnou mikrobiálnou transplantáciou má vynikajúce výsledky u pacientov s klostrídiovými črevnými infekciami, dokáže však reagulovať aj priebeh infekcií močových ciest?
The microbiome is a complex structure consisting of all bacteria, viruses, fungi and other microorganisms which colonize the surfaces and mucous membranes of the human body. There exists a specific and symbiotic relationship between the microbiome and the human body, both sides can benefit greatly from this relationship. Alterations of the normal microbiome composition can lead to various pathological conditions. The kidneys and gut micriobiome both produce several molecules which can regulate each other’s function in a positive or negative way. Are human urine and the mucous membranes of our urinary tract really sterile as suggested by the Human Microbiome project? Is it possible that there is a connection between the composition of the intestinal microbiome and the development of urinary tract infections in children? The therapy using fecal microbial transplantation has great results in patients with Clostridium difficile gut infections, but can it regulate the course of urinary tract infections in humans, too?
- Klíčová slova
- kolorenální osa,
- MeSH
- dítě MeSH
- infekce močového ústrojí mikrobiologie patologie MeSH
- klinické zkoušky jako téma MeSH
- lidé MeSH
- mikrobiota * MeSH
- močové ústrojí mikrobiologie MeSH
- nemoci ledvin * mikrobiologie patologie MeSH
- střevní mikroflóra MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- práce podpořená grantem MeSH
- přehledy MeSH