Familial juvenile nephronophtisis. Report of 16 families with a shared family tree

This is a study of a group of 23 patients from 16 families with a shared fa mily tree, developing chronic renal insufficiency (CRI). Out of the 23 pati ents, 18 were female and five male with an average renal death age of 18.4 years old, showing fevo clinical manifestations. The main reason for consul tation was the significant level of anemia. 17 patients had normal arterial tension, I patient manifested severe artery hypertension (AHT), 3 manifest ed mild AHT, and 2 manifested slight AHT. All the patients entered the fina l stage of CRI with a low level of hemoglobin averaging 6.5 g%. The urinaly sis revealed an average SG of 1,010, without proteinuria or with slight pro teinuria, lower than 500 mg in 24 hours. Three patients had microhematuria and the remainder had normal urinary sediment. A renal ultrasound in 18 cas es revealed a bilateral reduction in the kidney size, loss of the cortcomed ullar relation, an increase in the echogenety of the renal parenchyma, scat tered in all cases, and the presence of corticomedullar cysts in 5 cases. T he histopathological study performed in 8 cases revealed some findings whic h were compatible with chronic interstitial nephritis with corticomedullar cysts, The findings resemble those described in the literature in cases of familial juvenile nephronophthisis (FJN). An important aspect to be painted out is the presence of an interstitial infiltrate with mononuclear cells, an even more significant feature than any previously reported. We can concl ude that the members of these familial groups are carriers of FIN of recess ive autosomic transmission, which, in view of some differences in the clini cal presentation, age of onset of CRI some biochemical and morphological fi ndings, and the absence of genetic alterations as described in type I FJN, is a variant of this disease.