In 78 patients with hypomagnesemia in urolithiasis the clinical course of disease was established in relation to therapy and dynamics of changes of serum magnesium levels. Almost 70% of patients had multiple, bilateral or recurrent nephrolithiasis or nephrocalcinosis. 70% of patients had Ca-oxalate stones or bilateral nephrocalcinosis. In 52% of patients a long-term magnesium supplementation was necessary. Significant progress of nephrolithiasis and nephrocalcinosis was observed in 80% of patients with permanent hypomagnesemia and in 4% of patients with normalization of serum magnesium level. Three of 15 patients with hypomagnesemia and progress of disease were transplanted a kidney and two were treated by hemodialysis. All five patients with renal failure had bilateral nephrocalcinosis, in three of them familiar occurrence of nephrolithiasis and hypomagnesemia was found.

• MeSH
• alopurinol terapeutické užití   MeSH
• celulosa analogy a deriváty   terapeutické užití   MeSH
• citráty terapeutické užití   MeSH
• dialýza ledvin MeSH
• dítě MeSH
• dospělí MeSH
• hydrochlorthiazid terapeutické užití   MeSH
• kationtoměniče terapeutické užití   MeSH
• kojenec MeSH
• kombinovaná farmakoterapie MeSH
• ledvinové kameny etiologie   metabolismus   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• nedostatek hořčíku komplikace   farmakoterapie   MeSH
• nefrokalcinóza farmakoterapie   etiologie   MeSH
• oxid hořečnatý terapeutické užití   MeSH
• penicilamin terapeutické užití   MeSH
• předškolní dítě MeSH
• prognóza MeSH
• pyridoxin terapeutické užití   MeSH
• senioři MeSH
• transplantace ledvin MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• alopurinol MeSH
• celulosa MeSH
• citráty MeSH
• hydrochlorthiazid MeSH
• kationtoměniče MeSH
• oxid hořečnatý MeSH
• penicilamin MeSH
• phosphocellulose MeSH Prohlížeč
• pyridoxin MeSH

BACKGROUND AND AIMS: Vitamin D 24-hydroxylase is an enzyme encoded by the CYP24A1 gene, which inhibits the activation of vitamin D to form inactive metabolites. More than 20 currently described pathogenic variants (usually biallelic) of this gene are responsible for idiopathic infantile hypercalcemia manifested typically in childhood (often in newborns) with hypercalcemia, hypercalciuria, and nephrocalcinosis. However, a few patients (mostly with monoallelic heterozygous pathogenic variants) can develop mild symptoms in adulthood. CASE DESCRIPTION: We present the case of a 43-year-old male patient with hypertension and heterozygous Leiden mutation, with mural thrombi in the common iliac artery, who was sent by a nephrologist to endocrinological examination due to hypoparathyroidism, progressive hypercalcemia, hypercalciuria, and CKDG2A1. Complete laboratory and imaging methods (including PET-CT) excluded PTH-related peptide-mediated hypercalcemia and granulomatosis. Finally, the genetic analysis of the CYP24A1 gene revealed the presence of a novel combination of two heterozygous pathogenic variants: CYP24A1: c. 443T>C p.(Leu148Pro) and c.1186C>T p.(Arg396Trp). CONCLUSION: Differential diagnosis of patients with hypercalciuria, nephrocalcinosis, and hypercalcemia related to vitamin D exposure should include the CYP24A1 gene mutation. To the best of our knowledge, this is the first case of the novel combination of two heterozygous pathogenic variants of CYP24A1.

• Klíčová slova
• CYP24A1 mutation, adult, hypercalcemia, low PTH, nephrocalcinosis,
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

• Klíčová slova
• ACIDOSIS *, CHILD *, NEPHROCALCINOSIS *, RADIOGRAPHY *, RICKETS *,
• MeSH
• acidóza * MeSH
• dítě MeSH
• lidé MeSH
• nefrokalcinóza * MeSH
• rachitida * MeSH
• radiografie * MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

A 4-year-old boy suffering from hypocitraturic and hypercalciuric renal tubular acidosis with nephrolithiasis and nephrocalcinosis is reported. Renal function tests indicated that the patient had type 1 renal tubular acidosis. Potassium citrate rather than potassium bicarbonate, sodium citrate or bicarbonate is the preferred treatment for stones in RTA-I.

• MeSH
• antacida terapeutické užití   MeSH
• citráty metabolismus   terapeutické užití   MeSH
• kyselina citronová MeSH
• lidé MeSH
• nefrokalcinóza komplikace   farmakoterapie   moč   MeSH
• oxid uhličitý metabolismus   MeSH
• poruchy metabolismu vápníku komplikace   moč   MeSH
• předškolní dítě MeSH
• renální tubulární acidóza komplikace   farmakoterapie   moč   MeSH
• vyšetření funkce ledvin MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• antacida MeSH
• citráty MeSH
• kyselina citronová MeSH
• oxid uhličitý MeSH

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubular disorder that is frequently associated with progressive renal failure. The primary defect is related to impaired tubular reabsorption of magnesium and calcium in the thick ascending limb of Henle's loop. Mutations in PCLN-1, which encodes the renal tight junction protein paracellin-1 (claudin-16), were identified as the underlying genetic defects. Comprehensive clinical data and the results of PCLN-1 mutation analysis of 25 FHHNC families with 33 affected individuals are presented. Patients presented mainly with urinary tract infections, polyuria, and hematuria at a median age of 3.5 yr. At the time of diagnosis, the GFR was already decreased to <60 ml/min per 1.73 m(2) for 11 patients. Twelve patients exhibited progression to end-stage renal disease, at a median age of 14.5 yr. Treatment with magnesium salts and thiazides seemed to have no effect on the progression of the disease. Genotype analysis revealed PCLN-1 mutations in all except three mutant alleles (94%). Fifteen different mutations were observed, including eight novel mutations. The accumulation of mutations affecting the first extracellular loop was striking, with 48% of all mutant alleles exhibiting a Leu151Phe exchange. Haplotype analysis strongly suggested a founder effect among patients with FHHNC who originated from Germany or eastern European countries. In 13 of 23 families, hypercalciuria and/or nephrolithiasis were observed in otherwise unaffected family members, indicating a possible role of heterozygous PCLN-1 mutations in yielding hypercalciuric stone-forming conditions.

• MeSH
• dítě MeSH
• fenotyp MeSH
• genotyp MeSH
• hořčík krev   MeSH
• klaudiny MeSH
• kohortové studie MeSH
• kojenec MeSH
• ledviny patofyziologie   MeSH
• lidé MeSH
• membránové proteiny genetika   MeSH
• mladiství MeSH
• molekulární sekvence - údaje MeSH
• mutace genetika   MeSH
• nefrokalcinóza genetika   metabolismus   patofyziologie   MeSH
• předškolní dítě MeSH
• rodokmen MeSH
• sekvence aminokyselin genetika   MeSH
• vápník moč   MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• claudin 16 MeSH Prohlížeč
• hořčík MeSH
• klaudiny MeSH
• membránové proteiny MeSH
• vápník MeSH

• MeSH
• diferenciální diagnóza MeSH
• lidé MeSH
• medulární houbovitá ledvina diagnóza   MeSH
• nefrokalcinóza diagnóza   MeSH
• urogenitální tuberkulóza diagnóza   MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH

• MeSH
• dítě MeSH
• lidé MeSH
• nefrokalcinóza genetika   MeSH
• předškolní dítě MeSH
• rodokmen MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH

Disease conditions that involve multiple predisposing or contributing factors, or manifest as low performance and/or low-level mortality, can pose a diagnostic challenge that requires an interdisciplinary approach. Reaching a diagnosis may also be limited by a lack of available clinical profile parameter reference ranges to discriminate healthy fish from those affected by specific disease conditions. Here, we describe our experience investigating poorly performing rainbow trout (Oncorhynchus mykiss) in an intensive recirculation aquaculture, where reaching a final diagnosis of nephrocalcinosis was not as straightforward as one would wish. To list the issues making the diagnosis difficult, it was necessary to consider the creeping onset of the problem. Further diagnostic steps needed to ensure success included obtaining comparative data for fish blood profiles and water quality from both test and control aquacultural systems, excluding infections with salmonid pathogenic agents and evaluating necropsy findings. Major events in the pathophysiology of nephrocalcinosis could be reconstructed as follows: aquatic environment hyperoxia and hypercapnia → blood hypercapnia → blood acid-base perturbation (respiratory acidosis) → metabolic compensation (blood bicarbonate elevation and kidney phosphate excretion) → a rise in blood pH → calcium phosphate precipitation and deposition in tissues. This case highlights the need to consider the interplay between water quality and fish health when diagnosing fish diseases and reaching causal diagnoses.

• Klíčová slova
• acid-base, aquaculture, blood acid-base balance, carbon dioxide, fish health, rainbow trout, water quality,
• Publikační typ
• časopisecké články MeSH

• MeSH
• dihydrotachysterol škodlivé účinky   farmakologie   MeSH
• diuréza účinky léků   MeSH
• krysa rodu Rattus MeSH
• nefrokalcinóza chemicky indukované   MeSH
• sexuální faktory MeSH
• zvířata MeSH
• Check Tag
• krysa rodu Rattus MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• dihydrotachysterol MeSH

Idiopathic hypercalciuria (IH) is defined as hypercalciuria that persists after correction of dietary inbalances and has no detectable cause. The excretion of urinary N-acetyl-beta-D-glucosaminidase (U-NAG), a marker of proximal tubular damage, has been previously reported as either increased or normal in children with IH. We evaluated U-NAG in 20 children (13 boys and 7 girls, mean age 10.3 years +/- 5.7 SD) with IH (urinary calcium excretion above 0.1 mmol/kg/24 hours, with no detectable cause) and with otherwise normal renal function tests. Ultrasound examination revealed urolithiasis (n=4) and nephrocalcinosis (n=1). The U-NAG values were evaluated in the spot urine collected from the second morning void and calculated as the urinary NAG/creatinine ratio (U-NAG/Cr) and expressed in nkat/mmol. The 24-hour urinary calcium excretion (U-Ca/24h) was assessed in a urinary sample from 24-hour collected urine and calculated in mmol/kg. The obtained results of U-Ca/24h and U-NAG/Cr were expressed as Z-scores. When compared to the reference data, the U-Ca/24h and U-NAG/Cr were significantly higher (p = 0.0004 and p = 0.006, respectively). There was no correlation between the U-NAG/Cr and U-Ca/24h (r = 0.18, p = 0.20). The U-NAG/Cr values were significantly higher in the 5 patients with urolithiasis/nephrocalcinosis, whether compared to the rest of the group (p = 0.02), or to the reference data (p = 0.01). The U-NAG/Cr activity was higher in 15 children without urolithiasis/nephrocalcinosis when compared to reference data (p < 0.01). There was no difference in U-Ca/24h between the children with and without urolithiasis/nephrocalcinosis (p = 0.58). These findings suggest that tubular impairment, as reflected by U-NAG/Cr, might occur in children with IH, especially in patients with urolithiasis/nephrocalcinosis. There doesn't seem to be a direct relationship between the U-NAG/Cr activity and the degree of calcium leakage.

• MeSH
• acetylglukosaminidasa moč   MeSH
• dítě MeSH
• ledvinové kanálky patofyziologie   MeSH
• lidé MeSH
• močové kameny patofyziologie   moč   MeSH
• nefrokalcinóza patofyziologie   moč   MeSH
• vápník moč   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• acetylglukosaminidasa MeSH
• vápník MeSH