Ophthalmology
Stephan Strobel, Lewis Spitz, Stephen D. Marks in Great Ormond Street Handbook of Paediatrics, 2019
These may be: Hereditary.Ocular: coloboma, ectopia lentis, aniridia, retinitis pigmentosa, and posterior lenticonus.Systemic: Renal disease: Alport syndrome.Skeletal disease: Marfan syndrome.Skin disease: atopic dermatitis, Marshall syndrome, lamellar icthyosis.Chromosomal disorders: trisomy 21.Metabolic disease: galactokinase deficiency, Fabry disease, Refsum disease, mannosidosis, diabetes mellitus, hypocalcaemia.Neurological disorders: myotonic dystrophy, Wilson disease.Miscellaneous: chronic uveitis, drug induced (steroids), NF2, Stickler syndrome.
Section 7
Padmanabhan Ramnarayan in MCQs in Paediatrics for the MRCPCH, Part 1, 2017
Except in a cleft palate, the cause for deafness is sensorineural. In the child with a cleft palate, Eustachian tube dysfunction causes serous otitis with conductive deafness. Alport syndrome is a hereditary disease (X-Section 7: Answers linked) with nephritis, renal failure and deafness. Deafness from meningitis is probably immunological and dexamethasone is given in most cases to avoid this complication (evidence for preventing Haemophilus infection-related deafness is strong).
Nephrology in China: A Specialty Preparing for the 21st Century Challenge
Meguid El Nahas in Kidney Diseases in the Developing World and Ethnic Minorities, 2005
Renal biopsy was performed routinely in China in the last 20 years. However, a nationwide renal registry has not yet been organized. The largest single-center analysis including 13,519 cases was reported by Li and Liu (2) recently. As many patients came from various regions all over the country, it might be taken as an illustration of the epidemiology of renal disease in China. In total, 13,519 cases were collected during the period of January 1979 to December 2002. Among them, 7752 cases (57.3%) were male and 5767 cases (42.6%) were female. Their age averaged 32.712.2 (9–83) years. Primary GN accounted for 68.64%, secondary GN accounted for only 24.84%, tubular-interstitial diseases accounted for 3.43%, hereditary or congenital renal diseases took up 0.97%, and unclassified renal diseases took up 0.87% (Table 1). It was clearly shown that primary GN remained the most important and prevalent kidney disease in China. The ratio of primary to secondary GN as a whole was 2.75:1 (9278/3380). However, this ratio is progressively decreasing in the past two decades. It started from 3.61:1 (78.3–21.7%) in 1979 to 1985 and dropped steadily to 2.01:1 (66.8–33.2%) in 1998 and 1999. There was an increase in the incidence of secondary glomerular diseases such as diabetic nephropathy and nephrosclerosis. In addition, this change might be due to more cases of secondary GN diagnosed owing to improvement in the recognition of these diseases and more sophisticated diagnostic skills. In general, many cases of this category such as lipoprotein glomerulopathy, obesity-related glomerulopathy, and Fabry’s disease were identified only in the past decade. Obviously, some of them might have been missed before. Most cases of the Alport syndrome were diagnosed in the past 5 years after the introduction of type IV collagen >chains staining. Therefore, the real frequency of these diseases should be higher than that shown in Table 1 and need to be further evaluated (2).
Increased microvascular disease in X-linked and autosomal recessive Alport syndrome: a case control cross sectional observational study
Published in Ophthalmic Genetics, 2019
James D. Smith, Deb Colville, Nicolette Lyttle, Ecosse Lamoureux, Judy Savige
Alport syndrome affects 1 in 10,000 individuals, and is the second commonest cause of inherited renal failure in adults(1). Alport syndrome is characterised clinically by hematuria, progressive renal failure, hearing loss, and ocular abnormalities. Eighty-five % of families have X-linked disease with mutations in the COL4A5 gene, and the others have autosomal recessive inheritance with two mutations in the COL4A3 or COL4A4 genes (2–4). The corresponding type IV collagen α3, α4 and α5 chains constitute the α3α4α5 network of collagen IV, the major protein found in the basement membranes of the kidney, ear and eye which explains the combination of clinical features (5).
Corneal endothelial cell abnormalities in X-linked Alport syndrome
Published in Ophthalmic Genetics, 2020
Eleanor Nicklason, Heather Mack, Jacqueline Beltz, Julie Jacob, Mina Farahani, Deb Colville, Judy Savige
Alport syndrome is an inherited disease that affects at least one in 5,000 individuals and is characterised by renal failure, hearing impairment and ocular abnormalities (1). Inheritance is X-linked (OMIM 301050) in 85% of cases where mutations affect the COL4A5 gene (2,3). The other 15% have autosomal recessive disease with two mutations in trans in COL4A3 or COL4A4 (4). These genes code for the collagen IV α5, α3 and α4 chains which together form a network in the basement membranes of the glomerulus, cochlea and eye (cornea, lens capsule and retina).
An update on current and potential genetic insights and diagnosis of Alport syndrome
Published in Expert Opinion on Orphan Drugs, 2020
Alport syndrome has traditionally been defined on the basis of clinical findings and results of kidney biopsy. The discovery of the collagen IV genes COL4A3, COL4A4, and COL4A5 and the implication of these genes in the pathogenesis of Alport syndrome provided the opportunity to define the syndrome in terms of its molecular genetic etiology (Table 1) [13]. Importantly, a molecular genetic definition of Alport syndrome broadens the phenotypic spectrum of the disorder and identifies individuals at risk for progressive kidney disease, hearing loss, and ocular changes.
Related Knowledge Centers
- Hematuria
- Proteinuria
- Type IV Collagen
- Kidney Transplantation
- Genetic Disorder
- Glomerulonephritis
- Type IV Collagen
- Urine Test Strip
- Kidney Dialysis
- Lenticonus
- Keratoconus