Autoři v článku prezentují epidemiologii, rizikové faktory přispívající ke vzniku urolitiáz, věnují se dále laboratornímu vyšetření u litiatiků, včetně problematiky analýzy složení konkrementů a jeho významu. Hlavním cílem článku je předložení metod neinvazivní léčby jednotlivých typů litiázy, především metafylaxe u pacientů s litiázou, a to jak režimových opatřeních, tak i užití farmak, které přispívají ke snížení četností recidiv litiázy, ale i komplikacím, které jsou s tímto onemocněním spojené.

The authors present the epidemiology, risk factors contributing to the development of urolithiasis, laboratory examination in lithiatic patients, including the analysis of the composition of concrements and its significance. The main goal of the article is to present the methods of non-invasive treatment of different types of lithiasis, especially metaphylaxis in patients with lithiasis, both regimen measures and the use of drugs that contribute to reducing the frequency of recurrences of lithiasis, as well as complications associated with this disease

• MeSH
• Allopurinol pharmacology   therapeutic use   MeSH
• Urinalysis methods   MeSH
• Cystinuria drug therapy   complications   MeSH
• X-Ray Diffraction methods   MeSH
• Diuretics pharmacology   therapeutic use   MeSH
• Durapatite therapeutic use   MeSH
• Hypercalciuria drug therapy   complications   MeSH
• Hyperoxaluria drug therapy   complications   MeSH
• Hyperuricemia drug therapy   complications   MeSH
• Urinary Tract Infections etiology   complications   MeSH
• Potassium Citrate pharmacology   therapeutic use   MeSH
• Calculi etiology   classification   therapy   MeSH
• Clinical Laboratory Techniques methods   MeSH
• Humans MeSH
• Oxalates adverse effects   MeSH
• Risk Factors MeSH
• Urolithiasis * diagnosis   drug therapy   prevention & control   MeSH
• Calcium, Dietary therapeutic use   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Review MeSH

Urolitiáza se zvyšující se incidencí a prevalencí patří mezi civilizační choroby. Vysoký počet recidiv inicioval zdokonalení technik odstranění litiázy a současně zdůraznil význam preventivních a konzervativních postupů léčby. Metabolickým vyšetřením lze odhalit příčinu urolitiázy až u 97 % pacientů. Snažíme se kauzálně nastavit možnou konzervativní léčbu. Otazná zůstává com­pliance pacienta k dlouhodobé léčbě.

Urolithiasis with increasing incidence and prevalence is one of the diseases of civilization. High number of relapses initiated the improvement of lithiasis removal techniques, while emphasizing the importance of preventive and conservative treatment procedures. Metabolic examination can reveal the cause of urolithiasis in up to 97% of patients. We try to causally set up a possible conservative treatment. The patient's compliance with long-term treatment remains questionable.

• MeSH
• Hypercalciuria etiology   therapy   MeSH
• Hyperoxaluria etiology   classification   therapy   MeSH
• Humans MeSH
• Metabolic Diseases diagnosis   MeSH
• Urolithiasis * etiology   therapy   MeSH
• Check Tag
• Humans MeSH

BACKGROUND: Primary hypomagnesemia with secondary hypocalcemia (HSH) is a rare genetic disorder. Dysfunctional transient receptor potential melastatin 6 causes impaired intestinal absorption of magnesium, leading to low serum levels accompanied by hypocalcemia. Typical signs at initial manifestation are generalized seizures, tetany, and/or muscle spasms. CASE REPORT: We present a 5 w/o female manifesting tonic-clonic seizures. Laboratory tests detected severe hypomagnesemia and hypocalcemia. The molecular genetic analysis revealed two novel mutations within the TRPM6 gene c.3308dupC (p.Pro1104Thrfs*28) (p.P1104Tfs*28) and c.3958C>T (p.Gln1302*) (p.Q1302*) and the patient was successfully treated with Mg supplementation. CONCLUSION: Ion disbalance should be taken into account in the differential diagnosis of infantile seizures. Accurate diagnosis of HSH together with appropriate treatment are crucial to prevent irreversible neurological outcomes.

• MeSH
• Magnesium MeSH
• Hypercalciuria MeSH
• Hypocalcemia * genetics   MeSH
• TRPM Cation Channels * genetics   MeSH
• Humans MeSH
• Mutation MeSH
• Magnesium Deficiency * congenital   genetics   MeSH
• Nephrocalcinosis MeSH
• Renal Tubular Transport, Inborn Errors MeSH
• Seizures genetics   MeSH
• Check Tag
• Humans MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Case Reports MeSH

X- vázaná hypofosfatemie (XLH) je chronické, progresivní onemocnění a nejběžnější forma vrozené hypofosfatemické kři‑ vice (ztráty fosforu, P) způsobené mutací v genu PHEX. Onemocnění se nejčastěji projevuje v dětství deformacemi dolních končetin a malým vzrůstem. Diagnostika onemocnění je často opožděná vzhledem ke vzácnému výskytu onemocnění. Včasná konvenční terapie, která zahrnuje substituci fosforu a podávání aktivní formy D vitaminu, zlepšuje růst a hojení rachitidy, ale u významné části pacientů je neúspěšná a má až v 60 % závažné nežádoucí účinky na ledviny. Uvádíme případ chlapce s XLH, u něhož se vyskytly komplikace konvenční léčby – hyperkalciurie a nefrokalcinóza s rozvojem chronického onemocnění ledvin, sekundární hyperpartyreóza a rovněž vzácně se vyskytující kardiovaskulární postižení.

XLH is a chronic, progressive disorder of renal phosphate (P) wasting and the most common form of heritable hypophos‑ phatemic rickets. XLH is caused by a loss‑of‑function mutation in the PHEX gene. XLH patients most commonly present themselves in childhood with bowing deformities of the legs and small stature. Because of its rarity, the diagnosis and specific treatment of XLH are frequently delayed. The early conventional therapy includes phosphate and active form of D vitamin and improves growth and rickets healing, however in a substantial proportion of patient it is unsuccessful and has adverse effects on kidney, which has been reported in 60% of patients with XLH. We report a boy with XLH and many adverse effects of conventional therapy – hypercalciuria and nephrocalcinosis with progression to chronic kidney disease, secondary hyperparathyroidism and also rare cardiovascular disease.

• Keywords
• konvenční léčba,
• MeSH
• Patient Compliance MeSH
• Child MeSH
• Ventricular Dysfunction, Left diagnosis   MeSH
• Familial Hypophosphatemic Rickets * diagnosis   drug therapy   complications   therapy   MeSH
• Phosphates administration & dosage   MeSH
• Phosphorus blood   MeSH
• Hypercalciuria diagnosis   MeSH
• Hyperparathyroidism diagnosis   MeSH
• Drug Therapy, Combination MeSH
• Kidney diagnostic imaging   pathology   MeSH
• Humans MeSH
• Nephrocalcinosis diagnosis   MeSH
• Growth MeSH
• Statistics as Topic MeSH
• Vitamin D administration & dosage   MeSH
• Treatment Outcome MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Male MeSH
• Publication type
• Case Reports MeSH
• Research Support, Non-U.S. Gov't MeSH

• Keywords
• klaudin-2,
• MeSH
• Hypercalciuria MeSH
• Humans MeSH
• Mice abnormalities   MeSH
• Calcium Metabolism Disorders * MeSH
• Urolithiasis genetics   MeSH
• Animals MeSH
• Check Tag
• Humans MeSH
• Mice abnormalities   MeSH
• Animals MeSH

BACKGROUND/AIMS: The CYP24A1 gene encodes the vitamin D 24-hydroxylase enzyme, which hydroxylates active forms of vitamin D into inactive forms. Biallelic mutations in the CYP24A1 gene can lead to elevated levels of active vitamin D metabolites and, consequently, to hypercalcemia, hypercalciuria, nephrocalcinosis, and nephrolithiasis; however, monoallelic mutations have been associated only with milder phenotypes. In the present manuscript, we report the case of a young male patient who presented hypercalcemia and nephrolithiasis, suppressed parathormone, and elevated 1,25 dihydroxy vitamin D levels. METHODS: Biochemical analyses were performed on Cobas 8000, F. Hoffmann-La Roche AG, Basel, Switzerland. The proband was initially evaluated for occult malignancies by body imaging, serum electrophoresis, and tumor markers, which did not reveal any pathology. DNA samples of the proband and his sibling were then examined using Sanger sequencing. RESULTS: Genetic analysis revealed 2 compound heterozygous CYP24A1 mutations (p.L148P and p.R223*). The novel nonsense CYP24A1 mutation, p.R223*, was also found heterozygously in other family members with a medical history of nephrolithiasis. CONCLUSIONS: The identification of this gene mutation causing hypercalcemia, hypercalciuria, and renal stones allows the specific management of endogenous vitamin D production.

• MeSH
• Vitamin D3 24-Hydroxylase genetics   MeSH
• Hypercalcemia MeSH
• Hypercalciuria MeSH
• Kidney Calculi genetics   MeSH
• Humans MeSH
• Young Adult MeSH
• Mutation * MeSH
• Sequence Analysis, DNA MeSH
• Siblings MeSH
• Vitamin D blood   MeSH
• Check Tag
• Humans MeSH
• Young Adult MeSH
• Male MeSH
• Publication type
• Case Reports MeSH

BACKGROUND: Hypomagnesaemia is present in 40-50% of children with autosomal dominant renal cysts and diabetes syndrome (RCAD). On the contrary, the prevalence of hypomagnesaemia in children with autosomal dominant polycystic kidney disease (ADPKD) has never been examined. We aimed to investigate whether hypomagnesaemia is present in children with polycystic kidney diseases. METHODS: Children with cystic kidney diseases were investigated in a cross-sectional study. Serum concentrations of magnesium (S-Mg) and fractional excretion of magnesium (FE-Mg) were tested. Fifty-four children with ADPKD ( n = 26), autosomal recessive polycystic kidney disease (ARPKD) ( n = 16) and RCAD ( n = 12) with median age of 11.2 (0.6-18.6) years were investigated. RESULTS: Hypomagnesaemia (S-Mg < 0.7 mmol/L) was detected in none of the children with ADPKD/ARPKD and in eight children (67%) with RCAD. Median S-Mg in children with ADPKD/ARPKD was significantly higher than in children with RCAD (0.89 vs. 0.65 mmol/L, P < 0.01). The FE-Mg was increased in 23% of patients with ADPKD/ARPKD (all had chronic kidney disease stages 2-4) and in 63% of patients with RCAD, where it significantly correlated with estimated glomerular filtration rate (r = -0.87, P < 0.01). CONCLUSIONS: Hypomagnesaemia is absent in children with ADPKD or ARPKD and could serve as a marker for differential diagnostics between ADPKD, ARPKD and RCAD in children with cystic kidney diseases of unknown origin where molecular genetic testing is lacking. However, while hypomagnesaemia, in the absence of diuretics, appears to rule out ADPKD and ARPKD, normomagnesaemia does not rule out RCAD at least in those aged <3 years.

• MeSH
• Kidney Diseases, Cystic blood   diagnosis   epidemiology   MeSH
• Diabetes Mellitus, Type 2 blood   diagnosis   epidemiology   MeSH
• Diagnosis, Differential MeSH
• Child MeSH
• Magnesium blood   MeSH
• Hypercalciuria blood   diagnosis   epidemiology   MeSH
• Infant MeSH
• Humans MeSH
• Adolescent MeSH
• Nephrocalcinosis blood   diagnosis   epidemiology   MeSH
• Central Nervous System Diseases blood   diagnosis   epidemiology   MeSH
• Infant, Newborn MeSH
• Polycystic Kidney, Autosomal Dominant blood   diagnosis   epidemiology   MeSH
• Polycystic Kidney, Autosomal Recessive blood   diagnosis   epidemiology   MeSH
• Child, Preschool MeSH
• Prevalence MeSH
• Cross-Sectional Studies MeSH
• Renal Tubular Transport, Inborn Errors blood   diagnosis   epidemiology   MeSH
• Dental Enamel abnormalities   MeSH
• Check Tag
• Child MeSH
• Infant MeSH
• Humans MeSH
• Adolescent MeSH
• Male MeSH
• Infant, Newborn MeSH
• Child, Preschool MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

OBJECTIVE: Autosomal dominant hypocalcemia (ADH) is a rare disorder caused by activating mutations of the calcium-sensing receptor (CASR). The treatment of ADH patients with 1α-hydroxylated vitamin D derivatives can cause hypercalciuria leading to nephrocalcinosis. DESIGN AND METHODS: We studied a girl who presented with hypoparathyroidism and asymptomatic hypocalcemia at age 2.5 years. Mutations of CASR were investigated by DNA sequencing. Functional analyses of mutant and WT CASRs were done in transiently transfected human embryonic kidney (HEK293) cells. RESULTS: The proband and her father are heterozygous for an eight-nucleotide deletion c.2703_2710delCCTTGGAG in the CASR encoding the intracellular domain of the protein. Transient expression of CASR constructs in kidney cells in vitro suggested greater cell surface expression of the mutant receptor with a left-shifted extracellular calcium dose-response curve relative to that of the WT receptor consistent with gain of function. Initial treatment of the patient with calcitriol led to increased urinary calcium excretion. Evaluation for mosaicism in the paternal grandparents of the proband was negative. CONCLUSIONS: We describe a novel naturally occurring deletion mutation within the CASR that apparently arose de novo in the father of the ADH proband. Functional analysis suggests that the cytoplasmic tail of the CASR contains determinants that regulate the attenuation of signal transduction. Early molecular analysis of the CASR gene in patients with isolated idiopathic hypoparathyroidism is recommended because of its relevance to clinical outcome and treatment choice. In ADH patients, calcium supplementation and low-dose cholecalciferol avoids hypocalcemic symptoms without compromising renal function.

• MeSH
• Cytoplasm MeSH
• Genes, Dominant * MeSH
• Adult MeSH
• HEK293 Cells MeSH
• Heterozygote MeSH
• Hypercalciuria genetics   pathology   MeSH
• Hypocalcemia genetics   pathology   MeSH
• Hypoparathyroidism congenital   genetics   pathology   MeSH
• Humans MeSH
• Codon, Nonsense genetics   MeSH
• Child, Preschool MeSH
• Receptors, Calcium-Sensing chemistry   genetics   MeSH
• Family MeSH
• Pedigree MeSH
• Base Sequence MeSH
• Sequence Deletion * MeSH
• Protein Structure, Tertiary genetics   MeSH
• Check Tag
• Adult MeSH
• Humans MeSH
• Male MeSH
• Child, Preschool MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Case Reports MeSH
• Research Support, Non-U.S. Gov't MeSH

Článek pojednává o současných trendech metafylaxe urolitiázy, laboratorních vyšetřeních krve a moči určených k prevenci recidivy močových kamenů. Podrobněji jsou rozebrány dietní a léková opatření (obecná a specifická), jakožto i nejčastější metabolické poruchy spojené s tvorbou jednotlivých typů konkrementů.

The article deals with the current trends in the metaphylaxis of urolithiasis and laboratory blood and urine tests intended to prevent the recurrence of urinary stones. Dietary and medical measures (general and specific) as well as the most common metabolic disorders associated with the formation of particular types of concrements are discussed in more detail.

• MeSH
• Anti-Bacterial Agents therapeutic use   MeSH
• Citrates therapeutic use   MeSH
• Cystine metabolism   adverse effects   drug effects   MeSH
• Diet Therapy methods   utilization   MeSH
• Drug Therapy * methods   utilization   MeSH
• Hypercalciuria etiology   prevention & control   therapy   MeSH
• Hyperoxaluria etiology   prevention & control   therapy   MeSH
• Calculi diagnosis   etiology   therapy   MeSH
• Captopril therapeutic use   MeSH
• Clinical Laboratory Techniques methods   utilization   MeSH
• Uric Acid isolation & purification   MeSH
• Humans MeSH
• Metabolic Diseases diagnosis   etiology   therapy   MeSH
• Methionine therapeutic use   MeSH
• Urinary Calculi diagnosis   etiology   therapy   MeSH
• Oxalates MeSH
• Urolithiasis * diagnosis   prevention & control   therapy   MeSH
• Urologic Surgical Procedures * methods   utilization   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Review MeSH

Prezentujeme případ kojence s elevací alkalické fosfatázy (ALP) narozeného ve 28. týdnu těhotenství. Z důvodu perzistující elevace ALP je ve věku tří měsíců kromě pravidelného denního podávání vitaminu D3, kalcia a fosfátu aplikován kalciferol intramuskulárně. Při následujícím vyšetření z důvodu neprospívání byla zjištěna elevace ALP, mírná hyperkalcemie, významná hyperkalcurie a zvýšená hladina 25-OH-vitaminu D. V dalším průběhu se objevily klinické i laboratorní známky cholestázy. Pomocí MRCP byla prokázaná obstrukce ve vývodných cestách žlučových v důsledku mnohočetné cholelitiázy. Vzhledem k perzistujícím klinickým i laboratorním známkám cholestázy bylo provedeno ERCP a zaveden stent do oblasti choledochu na specializovaném pracovišti. V průběhu dalšího sledování dochází k ústupu klinických problémů a vymizení laboratorních ukazatelů cholestázy. V další části sdělení je diskutována použitelnost hladin ALP jako izolovaného parametru pro monitorování rizika vývoje metabolického onemocnění kostí nedonošených (MOKN) a stejně tak i pro vedení léčby tohoto onemocnění. Současně je poukázána nutnost hodnocení elevace ALP v kontextu s ostatními laboratorními i klinickými nálezy.

We present a case of an infant born in the twenty-eighth week of pregnancy with elevated alkaline phosphatase (ALP). In addition to the regular daily supplementation of vitamin D, calcium and phosphate an intramuscular injection of cholecalciferol was administered in the age of three month because of persistent elevation of ALP. At the subsequent examination carried out because of failure to thrive mild hypercalcemia, significant hypercalciuria and raised level of 25-OH-vitamin D3 were detected. During the further follow-up clinical and laboratory signs of cholestasis appeared. The obstruction of the efferent bile ducts due to multiple cholelithiasis has been demonstrated by MRCP. Considering persistent clinical and laboratory signs of cholestasis ERCP was performed and a stent has been inserted into the bile duct at the specialized medical facility. During the subsequent follow-up regression of clinical problems and disappearance of laboratory markers of cholestasis occurred. In the subsequent discussion the utility of ALP as isolated parameter for the monitoring of the risk for metabolic bone disease of prematurity development as well as for the management of this disease is argued about. At the same time the necessity of evaluation of elevated ALP in the context of other laboratory and clinical findings is emphasized.

• Keywords
• metabolické onemocnění kostí nedonošených,
• MeSH
• Alkaline Phosphatase * blood   MeSH
• Cholangiopancreatography, Endoscopic Retrograde MeSH
• Cholecystectomy MeSH
• Cholecystolithiasis diagnosis   MeSH
• Choledocholithiasis diagnosis   MeSH
• Cholelithiasis diagnosis   MeSH
• Cholestasis * diagnosis   surgery   MeSH
• Phosphates administration & dosage   blood   metabolism   MeSH
• Hypercalcemia complications   blood   MeSH
• Hypercalciuria complications   MeSH
• Infant MeSH
• Humans MeSH
• Cholangiopancreatography, Magnetic Resonance MeSH
• Bone Diseases, Metabolic diagnosis   prevention & control   MeSH
• Common Bile Duct Diseases * diagnosis   MeSH
• Infant, Premature, Diseases MeSH
• Infant, Premature metabolism   MeSH
• Stents MeSH
• Calcium administration & dosage   blood   metabolism   MeSH
• Vitamin D * administration & dosage   adverse effects   MeSH
• Check Tag
• Infant MeSH
• Humans MeSH
• Male MeSH
• Publication type
• Case Reports MeSH