Autori: M. Gafencu, G. Doros, R. Costa, M. Puiu, M. Serban;
Editorial: nature publishing group, European journal of human genetics, Volume 15 Supplement 1 June 2007, p.58, 2007.
Nephronophthisis (NPHP) or Familial juvenile nephronophthisis (FJN) is an autosomal recessive condition equally distributed in males and females that almost always progresses to end-stage renal disease usually during adolescence. Smith and Graham first reported NPHP in 1945, but the first description has been attributed to Fanconi et al in 1951. A gene involved in the disease – NPHP 1 has been mapped to chromosome 2q13. It has been estimated that FJN is responsible for approximately 2.4% of the cases of end-stage renal disease in children in the United States but this it may be underestimated as studies from Europe have revealed a higher frequency of 15% (Konrad et al). We present here a case of monozygotic twins emphasizing the identical progresion of the disease and importance of examination in children with deterioration of renal function, for determining a correct diagnosis. The first symptoms developed in our twins after the age of 10 and they consist of polyuria with polydipsia and than anemia. Renal ultrasonography revealed normal-sized kidneys.
Cuvinte cheie: nefroftizia familiala juvenila, copii, gemeni // Familial juvenile nephronophthisis, children, twins