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1.
Pediatr Nephrol ; 38(5): 1513-1521, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-36227436

RESUMEN

BACKGROUND: Cystinuria is an inherited metabolic disease involving the defective transport of cystine and the dibasic amino acids in the renal proximal tubules that causes the formation of stones in the urinary system. In our regional child health program, cystinuria is included in newborn metabolic screening. Our objectives are the phenotypic characterization of our cystinuric pediatric cohort and to present our experience in neonatal cystinuria screening. METHODS: The study of clinical cases of pediatric patients diagnosed with cystinuria over a period of 32 years. All patients were studied at demographic, clinical, laboratory, radiological, and therapeutic levels. RESULTS: We diagnosed 86 pediatric patients with cystinuria; 36% of them had the homozygous biochemical phenotype. 95.3% of the patients were detected by neonatal metabolic screening. We performed urine biochemical analyses of parents with additional diagnoses of 63 adult patients. The mean follow-up time was 16.8 ± 8.5 years. 11.6% of patients developed one or more episodes of urinary tract infection during that period. Chronic kidney disease, proteinuria, and hypertension were uncommon (1.2%). 10.5% developed kidney stones at the mean age of presentation of 7.78 ± 7.6 years; 33% were recurrent. The risk of developing lithiasis was higher for homozygous biochemical-phenotype patients. Hypercalciuria was a significant risk factor in the development of lithiasis. CONCLUSIONS: Our clinical data suggest that diagnosing cystinuria through neonatal screening could be a useful strategy for the detection of presymptomatic cases, in order to establish preventive measures, as well as for the detection of relatives at risk. A higher resolution version of the Graphical abstract is available as Supplementary information.


Asunto(s)
Cistinuria , Cálculos Renales , Litiasis , Humanos , Recién Nacido , Cistinuria/diagnóstico , Cistinuria/genética , Cistinuria/terapia , Tamizaje Neonatal , Cálculos Renales/diagnóstico , Cálculos Renales/epidemiología , Fenotipo
2.
Arch Esp Urol ; 68(5): 502-5, 2015 Jun.
Artículo en Español | MEDLINE | ID: mdl-26102054

RESUMEN

OBJECTIVE: Vesico-vaginal reflux (VVR) is defined as the reflux of urine into the vaginal vault during voiding, occasionally seen in pre- adolescent girls. The typical history consists in post voiding leaks in the daytime, that correspond to the progressive urine discharge from the vagina, after it has been filled up during micturition. We intend to show two cases presenting with significant urocolpos. METHODS: Description of two clinical cases observed in the pediatric urology office. RESULTS: Clinical case 1.- A 10-year-old girl presented with the complaint of diurnal incontinence (in the immediate post-voiding minutes). The early voiding phase in the cystourethrogram (VCUG) demonstrated progressive gross distension of the vagina (urocolpos) due to retrograde filling as the bladder emptied. The girl was managed with behavioural modifications, and was dry afterwards. Clinical case 2.- A 9-year-old girl presented with history of incomplete voiding. In infancy, she had right-sided vesicoureteral reflux (VUR) and was endoscopically treated at the age of 2. VCUG showed VVR, and no VUR. She was then successfully treated with behavioural modifications. Clinical case 3.- A 10-year-old girl complained of diurnal urinary incontinence, described as post voiding leaks. Again, a VCUG showed VVR and a small urocolpos. After re-education of voiding habits, leaks disappeared, but recurred 6 months afterwards, when she acknowledged no adherence to the therapy. DISCUSSION: Between 12 to 15% of girls referred to Urological clinics because of urine incontinence present VVR. In the absence of a clear anatomical obstruction, reflux happens as the urine flow encounters a natural obstacle in the labia majora usually in girls that close their legs as they void. Instructions on proper voiding form a key element in the management of VVR, and if not enough, the behavioural modification consists on a reverse position during voiding.


Asunto(s)
Orina , Vagina , Reflujo Vesicoureteral/complicaciones , Niño , Femenino , Humanos
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