Biomaterial Database

[Alport syndrome or progressive hereditary nephritis with hearing loss]. 2007

Marie-Claire Gubler, and Laurence Heidet, and Corinne Antignac

Inserm U-574, hôpital Necker-Enfants-malades, 149, rue de Sèvres, 75743 Paris cedex 15, France. gubler@necker.fr

Alport syndrome is an inherited disorder characterized by progressive hematuric nephritis with structural defects of the glomerular basement membrane, and sensorineural deafness. Ocular abnormalities are frequently associated. The incidence is approximatively 1/5000. The renal disease is severe in male patients and should be responsible for 2% of end-stage renal failure. Alport syndrome is heterogeneous at the clinical and genetic levels. It occurs as a consequence of structural abnormalities in type IV collagen, the major constituent of basement membranes. Six genetically distinct chains of type IV collagen have been identified. Mutations in the COL4A5 gene located at Xq22, and encoding the alpha 5(IV) chain are responsible for X-linked Alport syndrome whereas COL4A3 or COL4A4 located "head to head" on chromosome 2 are involved in the rarer autosomal forms of the disease.

UI	MeSH Term	Description	Entries
D007678	Kidney Glomerulus	A cluster of convoluted capillaries beginning at each nephric tubule in the kidney and held together by connective tissue.	Glomerulus, Kidney
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
D011379	Prognosis	A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.	Prognostic Factor,Prognostic Factors,Factor, Prognostic,Factors, Prognostic,Prognoses
D005799	Genes, Dominant	Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.	Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant
D006417	Hematuria	Presence of blood in the urine.	Hematurias
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001485	Basement Membrane	A darkly stained mat-like EXTRACELLULAR MATRIX (ECM) that separates cell layers, such as EPITHELIUM from ENDOTHELIUM or a layer of CONNECTIVE TISSUE. The ECM layer that supports an overlying EPITHELIUM or ENDOTHELIUM is called basal lamina. Basement membrane (BM) can be formed by the fusion of either two adjacent basal laminae or a basal lamina with an adjacent reticular lamina of connective tissue. BM, composed mainly of TYPE IV COLLAGEN; glycoprotein LAMININ; and PROTEOGLYCAN, provides barriers as well as channels between interacting cell layers.	Basal Lamina,Basement Lamina,Lamina Densa,Lamina Lucida,Lamina Reticularis,Basement Membranes,Densas, Lamina,Lamina, Basal,Lamina, Basement,Lucida, Lamina,Membrane, Basement,Membranes, Basement,Reticularis, Lamina
D018450	Disease Progression	The worsening and general progression of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.	Clinical Course,Clinical Progression,Disease Exacerbation,Exacerbation, Disease,Progression, Clinical,Progression, Disease
D034381	Hearing Loss	A general term for the complete or partial loss of the ability to hear from one or both ears.	Deafness, Transitory,Hearing Impairment,Hearing Loss, Transitory,Hypoacusis,Transitory Hearing Loss,Deafnesses, Transitory,Hypoacuses,Loss, Hearing,Loss, Transitory Hearing,Transitory Deafness,Transitory Deafnesses,Transitory Hearing Losses

Related Publications

Marie-Claire Gubler, and Laurence Heidet, and Corinne Antignac

[Chronic hereditary nephritis with hearing loss (Alport's syndrome)].

January 1989, Otolaryngologia polska = The Polish otolaryngology,

Marie-Claire Gubler, and Laurence Heidet, and Corinne Antignac

Alport syndromes: phenotypic heterogeneity of progressive hereditary nephritis.

June 2000, Pediatric nephrology (Berlin, Germany),

Marie-Claire Gubler, and Laurence Heidet, and Corinne Antignac

[Hereditary nephritis with inner ear deafness (Alport syndrome)].

October 1968, Deutsche medizinische Wochenschrift (1946),

Marie-Claire Gubler, and Laurence Heidet, and Corinne Antignac

[Hereditary nephritis (Alport)].

April 1978, Srpski arhiv za celokupno lekarstvo,

Marie-Claire Gubler, and Laurence Heidet, and Corinne Antignac

Nephritis and Hearing Loss-Not All Roads Lead to Alport Syndrome.

November 2021, Kidney international reports,

Marie-Claire Gubler, and Laurence Heidet, and Corinne Antignac

Hereditary nephritis with macrothrombocytopenia: no longer an Alport syndrome variant.

June 2001, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association,

Marie-Claire Gubler, and Laurence Heidet, and Corinne Antignac

Alport's syndrome (progressive hereditary nephritis).

January 1974, Clinical nephrology,

Marie-Claire Gubler, and Laurence Heidet, and Corinne Antignac

Hereditary nephritis (Alport syndrome): MR imaging findings in the brain.

January 1998, Computerized medical imaging and graphics : the official journal of the Computerized Medical Imaging Society,

Marie-Claire Gubler, and Laurence Heidet, and Corinne Antignac

Characterization of Sensorineural Hearing Loss in Children with Alport Syndrome.

December 2020, Life (Basel, Switzerland),

Marie-Claire Gubler, and Laurence Heidet, and Corinne Antignac

[Progressive hereditary nephritis].

May 1987, Ugeskrift for laeger,