The Role of Early Diagnosis of Hepatorenal Cystic (HRC) Syndrome in Children-Clinical Trial.
Curr Health Sci J
; 43(4): 355-360, 2017.
Article
em En
| MEDLINE
| ID: mdl-30595903
ABSTRACT
The hepatorenal cystic (HRC) syndrome is a heterogeneous group of severe monogenic conditions that may be detected before birth. Effective programme evaluation of children with HRC syndrome is a systematic way to identify the renal and urinary tract malformations which represent the most common cause of end-stage renal disease (ESRD). We conducted a study involving 50 patients, who were between 3 months and 16 years of age, with multiple admissions in the Nephrology Department of "Maria Sklodowska Curie" Children Emergency Hospital from Bucharest, during 6 years (April 14th 2010-October 24th 2016), to evaluate the HRC syndrome. The admission symptomatology was mainly represented by the nephrology evaluation which was essential in the management of children's polycystic kidney disease. For example, a premature infant (gestational age=32 weeks) with positive heredo-collateral history (mother and grandmother were diagnosed with polycystic kidney disease), was tested positive for cystic renal disease after the fetal morphology was performed. It was also done a genetic determination for the presence of PKD1 and PKD2 mutations which are specific to autosomal dominant polycystic kidney disease-ADPKD. However, the genetic test was negative and a postnatal nephrological evaluation was performed using renal ultrasound. The image revealed autosomal recessive polycystic kidney disease-ARPKD. This study emphasizes the importance of an early diagnosis (prenatal, neontal, postnatal) correlated with the admission symptoms and also with the genetic diagnosis (mutations of PKD1 and PKD2).
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article