Biomaterial Database

[Alport-syndrom with participation of the cornea and alterations of ERG (author's transl)]. 1976

D Huck, and H Meythaler, and R Rix

A description of a 26-year-old patient who had hearing difficulties, progressive nephropathy, and conus of the lens in both eyes is given. The ERG was below normal and the EOG remained normal. About the same time the nephropathy affliction occurred, a ringed abscess appeared in the left eye. Afterwards it healed with a scar, but half a year later the same affliction appeared in the right eye.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009394	Nephritis, Hereditary	A group of inherited conditions characterized initially by HEMATURIA and slowly progressing to RENAL INSUFFICIENCY. The most common form is the Alport syndrome (hereditary nephritis with HEARING LOSS) which is caused by mutations in genes for TYPE IV COLLAGEN and defective GLOMERULAR BASEMENT MEMBRANE.	Alport's Syndrome,Nephritis, Familial,Alport Syndrome,Alport Syndrome, Autosomal Dominant,Alport Syndrome, Autosomal Recessive,Alport Syndrome, X-Linked,Congenital Hereditary Hematuria,Hematuria-Nephropathy-Deafness Syndrome,Hematuric Hereditary Nephritis,Hemorrhagic Familial Nephritis,Hemorrhagic Hereditary Nephritis,Hereditary Familial Congenital Hemorrhagic Nephritis,Hereditary Hematuria Syndrome,Hereditary Interstitial Pyelonephritis,Hereditary Nephritis,Alport Syndrome, X Linked,Familial Nephritis,Hematuria Nephropathy Deafness Syndrome,Hematuria, Congenital Hereditary,Nephritis, Hematuric Hereditary,Nephritis, Hemorrhagic Familial,Nephritis, Hemorrhagic Hereditary,Pyelonephritis, Hereditary Interstitial,Syndrome, Alport,Syndrome, Hematuria-Nephropathy-Deafness,X-Linked Alport Syndrome
D012164	Retinal Diseases	Diseases involving the RETINA.	Disease, Retinal,Diseases, Retinal,Retinal Disease
D002386	Cataract	Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)	Cataract, Membranous,Lens Opacities,Pseudoaphakia,Cataracts,Cataracts, Membranous,Lens Opacity,Membranous Cataract,Membranous Cataracts,Opacities, Lens,Opacity, Lens,Pseudoaphakias
D003316	Corneal Diseases	Diseases of the cornea.	Corneal Disease,Disease, Corneal,Diseases, Corneal
D004596	Electroretinography	Recording of electric potentials in the retina after stimulation by light.	Electroretinographies
D005132	Eye Manifestations	Ocular disorders attendant upon non-ocular disease or injury.	Eye Manifestation,Manifestation, Eye,Manifestations, Eye
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults

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[Alport syndrom (author's transl)].

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[ERG- and EOG results in the vitreo-retinal syndrom of Jaffe (author's transl)].

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