ABSTRACT
La cistinuria es una enfermedad genética que se engloba dentro de alteraciones congénitas del transporte de aminoácidos con formación de cálculos en las vías urinarias, si bien es poco frecuente se caracteriza por su elevada recurrencia. En este trabajo presentamos el caso de una paciente de 34 años, con antecedentes de haber perdido un riñón por episodios anteriores de litiasis y con múltiples recidivas que es diagnosticada mediante la detección de cistina por espectroscopía infrarroja como componente único de 96 fragmentos de cálculos removidos mediante nefrolitotomía percutánea. La paciente fue evaluada laboratorialmente mediante el perfil metabólico y la cristaluria. Las indicaciones de tratamiento específicas incluyeron la administración de agentes alcalinizantes, régimen nutricional, y entrenamiento para control de pH urinario. Es importante señalar la agresividad de la litiasis de cistina con las consecuencias que puede tener la calidad de vida del paciente, y por tanto la importancia de contar con capacidades instaladas a nivel país para el diagnóstico y seguimiento de litiasis genéticas como la causada por la cistinuria(AU)
Cystinuria is a genetic disease that is included among congenital defects of renal amino acids transport that causes urinary stone formation. Although it is rare, it is characterized by its high recurrence. We present the case of a 34-year-old patient that lost one of her kidney because of recurrent episodes of lithiasis, and that was diagnosed by the detection of cystine with infrared spectroscopy as the sole component of 96 stone fragments removed by percutaneous nephrolithotomy. The patient was evaluated by metabolic profile and crystalluria. The specific treatment indications included the administration of alkalinizing agents, nutritional regimen, and training for personal measurement of urinary pH. This case highlights the aggressiveness of cystine stones with the consequences that may have on the quality of the patient life, and therefore the importance of having installed proper diagnostic capacities at national level to detect and monitor treatment efficacy in genetic lithiasis such as cystinuria(AU)
Subject(s)
Humans , Female , Adult , Cystinuria/diagnosis , Spectrophotometry, Infrared , Kidney Calculi/diagnosis , Kidney Calculi/chemistry , Cystinuria/complications , Cystinuria/therapy , Nephrolithiasis/diagnosis , Nephrolithiasis/etiology , Nephrolithiasis/therapyABSTRACT
Objective : Cystinuria is an autosomal recessive hereditary disorder associated with nephrolithiasis and its attendant complications. Traditional management using oral alkali; D-penicillamine; or mercaptopropionyglycine in an attempt to increase urinary cystine solubility is often unsuccessful due to intolerable side-effects. The aim of this study was to determine; if captopril could reduce urinary cystine excretion in homozygous cystinuric patients. Patients and methods : Three cystinuric patients with a history of multiple cystine stones despite previous traditional therapy were treated with 150 mg captopril daily for 3 years after determination of their baseline 24-hour urine cystine excretion. Cystine excretion studies were repeated subsequently at 6-month intervals. Results : The baseline 24-hour urine cystine excretion was within the expected limits for homozygous cystinuria in all patients (1072; 862 and 959 mg cystine per gm creatinine per 24 hours). After institution of captopril treatment; all patients had a significant decrease in urinary cystine levels (374; 313 and 451 mg cystine per gm creatinine per 24 hours). No patient experienced recurrent nephrolithiasis or adverse drug effects. Conclusion : We conclude that captopril can significantly decrease urinary cystine excretion in patients with homozygous cystinuria. Captopril should be considered an alternative to traditional drug management of cystinuria