A Villaquirán

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Nephronophthisis, an autosomal-recessive cystic kidney disease, is the most frequent monogenic cause for renal failure in childhood. Infantile and juvenile forms of nephronophthisis are known to originate from separate gene loci. We describe here a new disease form, adolescent nephronophthisis, that is clearly distinct by clinical and genetic findings. In a(More)
In a large Venezuelan kindred, a new type of nephronophthisis was recently identified: Adolescent nephronophthisis (NPH3) is a late-onset recessive renal cystic disorder of the nephronophthisis/medullary cystic group of diseases causing end-stage renal disease at a median age of 19 yr. With the use of a homozygosity mapping strategy, the gene (NPHP3) was(More)
This is a study of a group of 23 patients from 16 families with a shared family tree, developing chronic renal insufficiency (CRI). Out of the 23 patients, 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 consultation was the significant level of anemia. 17 patients had(More)
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