Medullary cystic disease vs nephronophthisis. A valid distinction?
It has been proposed that medullary cystic disease and nephronophthisis are distinguishable by the mode of inheritance and the age of onset. The former is inherited as an autosomal dominant, the latter as an autosomal recessive, with the onset at the average age of 26.7 years and 10.5 years, respectively. The present kindred would appear to have a dominant inheritance and onset at 10.1 years of age. This emphasizes the importance of examining those families in whom medullary cystic disease is suspected, prior to genetic consultation.
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D001344:Autopsy; D001794:Blood Pressure; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D007674:Kidney Diseases / Q000235:genetics; D052177:Kidney Diseases, Cystic / Q000175:diagnosis* / Q000473:pathology; D007679:Kidney Medulla; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D014398:Tuberculosis, Renal / Q000175:diagnosis* / Q000473:pathology; D014427:Twins