RESUMO
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.
RESUMO
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.
Assuntos
Hipocalcemia , Deficiência de Magnésio , Canais de Cátion TRPM , Feminino , Humanos , Hipercalciúria , Hipocalcemia/genética , Magnésio , Deficiência de Magnésio/congênito , Deficiência de Magnésio/genética , Mutação , Nefrocalcinose , Erros Inatos do Transporte Tubular Renal , Convulsões/genética , Canais de Cátion TRPM/genéticaRESUMO
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.
Assuntos
Proteínas de Grupos de Complementação da Anemia de Fanconi/genética , Predisposição Genética para Doença , Hemangioma/genética , RNA Helicases/genética , Mutação em Linhagem Germinativa/genética , Hemangioma/diagnóstico , Hemangioma/patologia , Humanos , Sistema Justaglomerular/patologia , Rim/metabolismo , Rim/patologiaAssuntos
Genes Dominantes , Hipertensão/genética , Mutação , Canais de Sódio/genética , Arginina , Criança , Canais Epiteliais de Sódio , Humanos , Masculino , ProlinaRESUMO
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disorder of unknown frequency. In its classic form, PNH is characterized by hemolysis accompanied by nocturnal hemoglobinuria. The clinical course is unpredictable and may vary from severe hemolysis and recurrent venous thrombosis to latent periods with milder symptoms. We report a 15-year-old girl with hemolytic episodes, abdominal pain, and passage of dark urine. Hemoglobinuria was demonstrated by a "blood"-positive dipstick test in the absence of red blood cells in the urinary sediment. The diagnosis of PNH was confirmed by flow cytometry.
