A family with retinitis pigmentosa and ESRD with late presentation, hypertension and absence of polyuria or salt wasting.
A family is described in which autosomal recessive inheritance of retinitis pigmentosa and chronic renal failure occurred. Several features, including late onset of renal failure, lack of salt wasting, the presence of hypertension and blindness in the sixth decade, are unusual and suggest that this may be a previously undescribed syndrome.
Friedlaender
M M
MM
Rubinger
D
D
Silver
J
J
Zlotogora
J
J
Merin
S
S
Popovtzer
M M
MM
D000328:Adult; D001766:Blindness / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D007668:Kidney / Q000473:pathology; D007676:Kidney Failure, Chronic / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011141:Polyuria; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012964:Sodium / Q000378:metabolism; D013577:Syndrome; D013997:Time Factors
D012964:Sodium