• MeSH
• akutní poškození ledvin krev   prevence a kontrola   moč   MeSH
• alopurinol aplikace a dávkování   MeSH
• antioxidancia aplikace a dávkování   MeSH
• cystinóza krev   diagnóza   moč   MeSH
• diferenciální diagnóza MeSH
• dítě MeSH
• Fanconiho syndrom krev   diagnóza   moč   MeSH
• genetické testování MeSH
• kyselina močová krev   metabolismus   moč   MeSH
• ledvinové kanálky metabolismus   MeSH
• lidé MeSH
• močové kameny krev   diagnóza   genetika   moč   MeSH
• přenašeče organických aniontů genetika   MeSH
• proteiny přenášející organické kationty genetika   MeSH
• proteiny usnadňující transport glukosy genetika   MeSH
• renální reabsorpce MeSH
• syndrom nepřiměřené sekrece ADH krev   diagnóza   moč   MeSH
• vrozené poruchy tubulárního transportu krev   diagnóza   genetika   moč   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

• MeSH
• dítě MeSH
• kyselina močová krev   moč   MeSH
• lidé MeSH
• nemoci ledvin krev   diagnóza   moč   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

• MeSH
• dospělí MeSH
• hypertenze MeSH
• krevní tlak MeSH
• kyselina močová krev   moč   MeSH
• ledviny patologie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• prevalence MeSH
• puriny metabolismus   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• kongresy MeSH

Kyselina močová (KM) je konečným produktem metabolismu purinů u člověka. KM pochází u člověka ze tří zdrojů: z nukleotidů z potravy, z rozpadu tkáňových nukleoproteinů a z vlastní syntézy. KM je ze 75-80 % vylučována ledvinami, zbylá část je z těla vylučována gastrointestinálním traktem a potem. Koncentrace KM v plazmě závisí na příjmu purinů potravou, na intenzitě vlastní tvorby a na jejím vylučování. Klinický význam mají zvýšené hodnoty KM v krvi (hyperurikemie) a zvýšené vylučování KM do moči (hyperurikosurie). Při poruchách metabolismu KM bývá největším a nejčastějším problémem pro člověka hyperurikemie, neboť pokud není léčena a není pod kontrolou, vede ke vzniku dny (Athritis uratica) se všemi dalšími negativními důsledky pro lidský organismus včetně tvorby urátové litiázy. Závažné následky pro člověka má i hyperurikosurie, která nemusí být nutně provázena hyperurikemií. V přehledném článku jsou podrobně uvedeny nemoci, k nimž dochází na podkladě poruch metabolismu KM, v závěru článku jsou uvedeny možnosti terapie a prevence při poruchách metabolismu KM.

Uric acid (UA) is the end product of purine metabolism in man. There are three sources of UA in man: food nucleotides, degradation of tissue nucleoproteins, and biosynthesis. UA is eliminated by the kidneys in 75-80%, with the remainder being excreted from the body by the gastrointestinal tract and through perspiration. Plasma UA concentration depends on dietary purine intake, intensity of its intrinsic formation, and its elimination rate. Elevated levels of UA in the blood (hyperuricaemia) and increased urinary UA excretion (hyperuricosuria) are of clinical significance. In the case of disorders of UA metabolism, hyperuricaemia tends to be the major and most common problem for man since, when it is untreated and uncontrolled, it leads to the development of gout (gouty arthritis) with all its negative consequences for the human body, including uric acid lithiasis. Serious consequences for man are also associated with hyperuricosuria which may not necessarily be accompanied by hyperuricaemia. The review article presents in detail diseases that occur in the setting of underlying disorders of UA metabolism; also discussed are the options of treatment and prevention for disorders of UA metabolism.

• MeSH
• hyperurikemie etiologie   klasifikace   patologie   MeSH
• kyselina močová * metabolismus   škodlivé účinky   MeSH
• lidé MeSH
• nemoci ledvin * chemicky indukované   etiologie   patologie   MeSH
• urolitiáza etiologie   klasifikace   patologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• přehledy MeSH

Renal hypouricemia (RHUC) is caused by an inherited defect in the main reabsorption system of uric acid, SLC22A12 (URAT1) and SLC2A9 (GLUT9). RHUC is characterized by a decreased serum uric acid concentration and an increase in its excreted fraction. Patients suffer from hypouricemia, hyperuricosuria, urolithiasis, and even acute kidney injury. We report clinical, biochemical, and genetic findings in a cohort recruited from the Košice region of Slovakia consisting of 27 subjects with hypouricemia and relatives from 11 families, 10 of whom were of Roma ethnicity. We amplified, directly sequenced, and analyzed all coding regions and exon-intron boundaries of the SLC22A12 and SLC2A9 genes. Sequence analysis identified dysfunctional variants c.1245_1253del and c.1400C>T in the SLC22A12 gene, but no other causal allelic variants were found. One heterozygote and one homozygote for c.1245_1253del, nine heterozygotes and one homozygote for c.1400C>T, and two compound heterozygotes for c.1400C>T and c.1245_1253del were found in a total of 14 subjects. Our result confirms the prevalence of dysfunctional URAT1 variants in Roma subjects based on analyses in Slovak, Czech, and Spanish cohorts, and for the first time in a Macedonian Roma cohort. Although RHUC1 is a rare inherited disease, the frequency of URAT1-associated variants indicates that this disease is underdiagnosed. Our findings illustrate that there are common dysfunctional URAT1 allelic variants in the general Roma population that should be routinely considered in clinical practice as part of the diagnosis of Roma patients with hypouricemia and hyperuricosuria exhibiting clinical signs such as urolithiasis, nephrolithiasis, and acute kidney injury.

• Publikační typ
• časopisecké články MeSH

812 children with nephrolithiasis were examined. Metabolism disorders were defined including, hypercalciuria and hypernatriuria in 37.3 2.4% of children, calciuria - in 62.5 5.3%, phosphaturia - in 26.6 2.5%, hyperoxaluria - in 83.1 1.76%, hand hyperuricosuria - in 51.7 4.7% have been fixed in 812 children with nephrolithiasis. In 80% events kidney stones contained 63-84% urinal calcium and oxalate acids. The study has revealed that kidney H secretion was decreased in all patients with nephrolithiasis accompanied with metabolic acidosis. The study has made possible to describe state of metabolism in patients with nephrolithiasis, define the occurrence frequency of the main metabolic disorders, and evaluate the importance of the specific biochemical investigations of this disease.

• MeSH
• acidóza MeSH
• dítě MeSH
• draslík krev   metabolismus   MeSH
• hořčík krev   metabolismus   MeSH
• hyperfosfatemie krev   metabolismus   MeSH
• hyperkalciurie krev   metabolismus   MeSH
• hypernatremie krev   metabolismus   MeSH
• hyperoxalurie krev   metabolismus   MeSH
• ledvinové kameny etiologie   chemie   MeSH
• lidé MeSH
• metabolické nemoci * krev   patofyziologie   MeSH
• nefrolitiáza * etiologie   metabolismus   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH

Renal hypouricemia (RHUC) is a pathological condition characterized by extremely low serum urate and overexcretion of urate in the kidney; this inheritable disorder is classified into type 1 and type 2 based on causative genes encoding physiologically-important urate transporters, URAT1 and GLUT9, respectively; however, research on RHUC type 2 is still behind type 1. We herein describe a typical familial case of RHUC type 2 found in a Slovak family with severe hypouricemia and hyperuricosuria. Via clinico-genetic analyses including whole exome sequencing and in vitro functional assays, we identified an intronic GLUT9 variant, c.1419+1G>A, as the causal mutation that could lead the expression of p.Gly431GlufsTer28, a functionally-null variant resulting from exon 11 skipping. The causal relationship was also confirmed in another unrelated Macedonian family with mild hypouricemia. Accordingly, non-coding regions should be also kept in mind during genetic diagnosis for hypouricemia. Our findings provide a better pathogenic understanding of RHUC and pathophysiological importance of GLUT9.

• Publikační typ
• časopisecké články MeSH

In medullary sponge kidney (MSK)-a common malformative renal condition in patients with calcium nephrolithiasis-hypercalciuria, incomplete distal renal tubular acidosis, and hypocitraturia are common. Clinical conditions with concomitant hypercalciuria and/or incomplete distal renal tubular acidosis are almost invariably associated with bone disease, making osteopathy highly likely in MSK, too. Patients with MSK have never been investigated for osteopathy; neither has the potential effect of potassium citrate administration (CA) on their urinary metabolic risk factors and on bone mineralization. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: These issues were retrospectively analyzed in 75 patients with MSK and primary stone risk factor (PSRF; hypercalciuria, hypocitraturia, hyperuricosuria, and/or hyperoxaluria) on an outpatient basis; 65 received CA (2.9 +/- 0.8 g/d), whereas 10 received only general "stone clinic" suggestions. The 24-h urinary excretion of calcium, phosphate, oxalate, uric acid, and citrate; morning urine pH; serum biochemistry; and bone mineral density were investigated at baseline and at the end of follow-up (78 +/- 13 and 72 +/- 15 mo in groups A and B, respectively). RESULTS: CA led to a significant rise in urinary pH and citrate and decreased urinary calcium and phosphate (all P < 0.001). Patients with MSK and PSRF had reduced bone density. Bone density improved significantly in the group that was treated with oral CA. CONCLUSIONS: Bone disease is very frequent in patients with MSK and concomitant PSRF. Long-term CA improves bone density. The concurrent effects of treatment on PSRF suggest that the subtle acidosis plays a pivotal role in bone disease and hypercalciuria in patients with MSK.

• MeSH
• absorpční fotometrie MeSH
• diuretika aplikace a dávkování   MeSH
• dospělí MeSH
• financování organizované MeSH
• fosfáty moč   MeSH
• hyperkalciurie etiologie   farmakoterapie   MeSH
• kaliumcitrát aplikace a dávkování   MeSH
• koncentrace vodíkových iontů účinky léků   MeSH
• kostní denzita účinky léků   MeSH
• lidé MeSH
• medulární houbovitá ledvina farmakoterapie   komplikace   MeSH
• mladiství MeSH
• mladý dospělý MeSH
• následné studie MeSH
• nefrolitiáza farmakoterapie   komplikace   MeSH
• nemoci kostí komplikace   prevence a kontrola   radiografie   MeSH
• renální tubulární acidóza etiologie   farmakoterapie   MeSH
• retrospektivní studie MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH

Autori prezentujú vzácnu kazuistiku novorodenca s toxickou dyspepsiou, extrémnou hyperurikémiou (2000 µmol/l) a akútnou renálnou insuficienciou (ARI). Pre oligoanúriu a vysoké uremické parametre indikovali peritoneálnu dialýzu, ktorá viedla k úprave azotémie a obnoveniu diurézy. Hyperurikémia (700–800 µmol/l) perzistovala aj po zlepšení obličkových funkcií (GFR 31ml/min; s-kreatinín 71 µmol/l), preto sa v diagnostike zamerali na zistenie príčiny hyperurikémie. Zistili zvýšenú renálnu exkréciu purínov a signifikantne zníženú aktivitu hypoxantínguanínfosforibozyltransferázy (HPRT) v erytrocytoch. Molekulovo-genetickou analýzou génu pre HPRT bola zistená doteraz v literatúre neopísaná zostrihová mutácia v intróne 1 (c.27+2T>C). Pacient dovŕšil 1 rok, má oneskorený psychomotorický vývoj s dyskinézami. Renálne funkcie sú stabilizované, ale hyperurikémia pretrváva aj pri liečbe alopurinolom, USG nález obličiek progreduje (redukcia parenchýmu a hrudkovité kalcifikáty). Autori predpokladajú kauzálnu súvislosť medzi ARI v novorodeneckom období (akútna urátová nefropatia) a Leschovým-Nyhanovým syndrómom. Kazuistika je tretím publikovaným prípadom novorodenca s ARI a dedičnou poruchou syntézy purínov. U detí s hyperurikémiou vždy treba myslieť aj na DPM purínov a pri dôkaze nadprodukcie kyseliny močovej v tele indikovať enzymatické vyšetrenie.

Inborn error of metabolism (IEM) of purines associated with hyperuricemia is a rare cause of acute renal failure in childhood. It could be caused by a mutation in hypoxanthin- guanin-phosphoribosyl-transferase (HPRT) gene, leading to over production of uric acid and hyperuricosuria. Lesch-Nyhan syndrome (LNS) is an X-linked disease caused by complete deficiency of HPRT activity, while partial HPRT deficiency is termed Kelley-Seegmiller syndrome. LNS mainly affects the kidney – as acute and chronic urate nephropathy and urolithiasis, joints – gouty arthritis, and nervous system. Neurological symptoms include mental retardation, dystonia, spasticity, hyperreflexia. Psychiatric features could be serious and include self-mutilation tendency. Prognosis is bad. Authors present a newborn boy with extreme hyperuricemia and acute renal failure (ARF), as a rare manifestation of IEM of purines. The 2 week-old boy was admitted with ARF, toxic dyspepsia and extreme hyperuricemia 2000 µmol/l. Due to oligo/anuria, creatinine 526 µmol/l, and glomerular filtration rate (GFR) 3.7 ml/min, acute peritoneal dialysis was indicated. This treatment led to an improvement of laboratory and clinical parameters. However, despite of the renal functions restoration (GFR 50 ml/min), hyperuricemia 700–800 µmol/l persisted. They excluded secondary causes of hyperuricemia; also high Kaufman index indicated overproduction of uric acid. For suspicion of purine IEM they estimated purine metabolites in urine and blood and enzyme activity of HPRT. The results reflected severe deficit of HPRT activity. Authors identified a novel mutation in intron 1 (c.27+2T>C) in the HPRT encoding gene. At present, the patient is one year old, with delayed psychomotor development and dystonia. Kidney ultrasound shows progression of renal impairment – reduction of renal parenchyma and calcifications. The authors assume causality between ARF in newborn period (acute urate nephropathy) and diagnosis of purine IEM – severe deficiency of HPRT activity (Lesch-Nyhan syndrome). For managing the children with hyperuricemia, it is essential also to think about the possibility of a purine-metabolism disorder and to include the investigation of purine metabolism in differential diagnostic procedures.

• MeSH
• akutní poškození ledvin diagnóza   etiologie   terapie   MeSH
• diagnostické techniky molekulární metody   využití   MeSH
• dialýza využití   MeSH
• dyspepsie diagnóza   terapie   MeSH
• farmakoterapie metody   MeSH
• hyperurikemie dietoterapie   etiologie   terapie   MeSH
• Leschův-Nyhanův syndrom diagnóza   terapie   MeSH
• lidé MeSH
• mutace genetika   MeSH
• nemoci novorozenců diagnóza   etiologie   terapie   MeSH
• puriny metabolismus   MeSH
• vrozené, dědičné a novorozenecké nemoci a abnormality diagnóza   genetika   terapie   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH