[Autosomal dominant polycystic renal disease: a study of 5 familial cases].
Dominant autosomal polycystic renal disease (DAPRD) is the most common cystic nephropathy, with multiorgan expression in many cases. Chronic irreversible renal failure is its major complication. Its clinical presentation is variable and it may remain symptom-free; therefore, it is important to know its many renal and extrarenal features which may suggest the diagnosis together with the family history, and also indicate the diagnostic and therapeutic possibilities. The primary care physician may also play a role in prevention, with the early diagnosis of the involved patients and genetic counseling with information of the implications. We report 5 cases of DAPRD with a clinical evaluation and family study, and also a succinct literature review.
Puche López
N
N
Centro de Salud de Parla, Madrid.
González López
E
E
Yébenes Díaz
G
G
Kloppe Villegas
P
P
Rubio Benito
E
E
D000328:Adult; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000175:diagnosis* / Q000235:genetics
Enfermedad renal poliquística autosómica dominante: estudio de 5 casos familiares.