BACKGROUND: Assessment of kidney function in emergency settings is essential across all medical subspecialties. Daily assessment of patient creatinine results from emergency medical services showed that some deviated from expected values, implying drug-related interference. METHODS: Real-time clinical evaluation of an enzyme method (Roche CREP2) in comparison with the Jaffé gen. 2 method (Roche CREJ2) was performed. During the period of December 2022 and January 2023, we analyzed 8,498 patient samples, where 5,524 were heavily medicated STAT patient specimens, 500 were pediatric specimens, and 2,474 were from a distant general population in a different region using the same methods. RESULTS: In 109 out of 5,524 hospital specimens (1.97%, p < 0.001), the CREP2 value was apparently (25% or more) lower than CREJ2. Suspect interfering medication was found in a sample of 43 out of 46 reviewed patients where medication data were available. This phenomenon was not observed in the general population. CONCLUSION: In a polymedicated urgent care hospital population, a creatinine enzyme method produces unreliable results, apparently due to multiple drug-related interferences.
- Publikační typ
- časopisecké články MeSH
- Publikační typ
- abstrakt z konference MeSH
Akutní gastroenteritida se běžně vyskytuje v klinické praxi pediatrů. Většinou se jedná o tzv. self-limited onemocnění s nekomplikovaným průběhem. Autoři uvádějí případ adolescenta s gastroenteritidou vedoucí k těžkému akutnímu poškození ledvin. Pro významný pokles glomerulární filtrace musela být zahájena eliminační terapie. V intermitentní hemodialýze jsme pokračovali sedm dní až do dostatečného zlepšení renálních funkcí. Clostridioides difficile byl identifikován jako příčina zvracení, krvavých průjmů a následné dehydratace. Pokud je nám známo, jedná se o první případ infekce C. difficile doprovázeného akutním poškozením ledvin vyžadující eliminační léčbu u dítěte.
Acute gastroenteritis is commonly seen in pediatric clinical practice. It is a largely self-limited disease with a benign course. We present a case of teenager with gastroenteritis resulting in severe acute kidney injury. The decline in glomerular filtration was so significant that renal replacement therapy had to be initiated. We had to continue in intermitent hemodialysis for seven days until sufficient improvement in renal function. Clostridioides difficile was identified as a cause of vomiting, bloody diarrhea and subsequent dehydration. To our knowledge, this is the first reported case of C. difficile-associated diarrhea accompanied by acute kidney injury requiring renal replacement therapy in a child.
- MeSH
- akutní poškození ledvin * etiologie patologie terapie MeSH
- dialýza ledvin MeSH
- fidaxomicin terapeutické užití MeSH
- gastroenteritida MeSH
- klostridiové infekce komplikace MeSH
- lidé MeSH
- mladiství MeSH
- náhrada funkce ledvin metody MeSH
- polymerázová řetězová reakce metody MeSH
- průjem MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- Publikační typ
- kazuistiky MeSH
- Klíčová slova
- poststreptokoková glomerulonefritida,
- MeSH
- akutní poškození ledvin diagnóza etiologie terapie MeSH
- glomerulonefritida * diagnóza etiologie terapie MeSH
- kožní manifestace MeSH
- lidé MeSH
- mladiství MeSH
- pyodermie diagnóza etiologie MeSH
- streptokokové infekce komplikace MeSH
- výsledek terapie MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky 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
- hořčík MeSH
- hyperkalciurie MeSH
- hypokalcemie * genetika MeSH
- kationtové kanály TRPM * genetika MeSH
- lidé MeSH
- mutace MeSH
- nedostatek hořčíku * vrozené genetika MeSH
- nefrokalcinóza MeSH
- vrozené poruchy tubulárního transportu MeSH
- záchvaty genetika MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Publikační typ
- abstrakt z konference MeSH
a
a
- Klíčová slova
- burosumab,
- MeSH
- familiární hypofosfatemická rachitida * diagnóza farmakoterapie MeSH
- humanizované monoklonální protilátky aplikace a dávkování terapeutické užití MeSH
- hypofosfatemie farmakoterapie krev MeSH
- lidé MeSH
- poruchy růstu diagnóza farmakoterapie MeSH
- rentgendiagnostika MeSH
- růst a vývoj účinky léků MeSH
- výsledek terapie MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Spindle cell hemangioma is a benign vascular tumor typically occurring in the dermis or subcutis of distal extremities as red-brown lesions that can grow in both size and number over time. They can be very painful and potentially disabling. A family history of cancer or previous history may be relevant and must be taken into consideration. Juxtaglomerular cell tumor (reninoma) is an extremely rare cause of secondary hypertension diagnosed mostly among adolescents and young adults. Excessive renin secretion results in secondary hyperaldosteronism. Subsequent hypokalemia and metabolic alkalosis, together with high blood pressure, are clues for clinical diagnosis. Histological examination of the excised tumor leads to a definitive diagnosis. Reninoma is found in subcapsular localization, in most cases as a solitary mass, in imaging studies of kidneys. Exceptionally, it can be located in another part of a kidney. Both spindle cell hemangioma and reninoma are extremely rare tumors in children and adolescents. Herein, the authors present a case report of a patient with hereditary BRCA1 interacting protein C-terminal helicase 1 (BRIP1) mutation, spindle cell hemangioma, and secondary hypertension caused by atypically localized reninoma.
- MeSH
- genetická predispozice k nemoci * MeSH
- hemangiom diagnóza genetika patologie MeSH
- juxtaglomerulární aparát patologie MeSH
- ledviny metabolismus patologie MeSH
- lidé MeSH
- proteiny FANC genetika MeSH
- RNA-helikasy genetika MeSH
- zárodečné mutace genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- kazuistiky MeSH
- práce podpořená grantem MeSH
- Publikační typ
- abstrakt z konference MeSH
