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Ophthalmology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, 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
Published in Padmanabhan Ramnarayan, 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
Published in Meguid El Nahas, Kidney Diseases in the Developing World and Ethnic Minorities, 2005
Shanyan Lin, Bicheng Liu, Fanfan Hou, Jiaqi Qian
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).
Ultrastructural and immunofluorescence analysis of anterior lens capsules in autosomal recessive Alport syndrome
Published in Ophthalmic Genetics, 2021
Jiayue Zhou, Jing Wu, Qichuan Yin, Xiaoning Yu, Yilei Cui, Hao Yang, Xingchao Shentu
Alport syndrome was first reported by Alport in 1927 and was described as a hereditary familial congenital hemorrhagic nephritis that is typically accompanied with progressive deafness; male patients tend to have more severe symptoms than females (13). Ocular abnormalities include anterior lenticonus, lens opacities, cataracts, myopia, pigmentary changes (‘flecks’) in the perimacular region, corneal endothelial vesicles, and corneal erosions (5). Anterior lenticonus was recorded in 22% of 94 AS patients (14). Streeten et al. first reported the ultrastructure of the anterior lens capsule of a 30-year-old female patient with lenticonus who had AS, revealing thinning and vertical dehiscences in the capsule and abnormalities in LECs (15). Other researchers also observed similar ultrastructural changes in anterior lens capsules of AS patients. Specifically, the thickness of anterior capsules ranged from 4 to 13 μm, and vertical dehiscences were observed in all cases (16–20). However, because 80%-85% of patients with AS are XLAS patients, all of the cases above are patients with XLAS or uncertain types of AS.
Retinal findings in glomerulonephritis
Published in Clinical and Experimental Optometry, 2022
Heather G Mack, Deborah J Colville, Phillip Harraka, Judith Anne Savige, Alessandro Invernizzi, Samantha Fraser-Bell
Alport syndrome is characterised by a triad of (usually) X-linked ocular, renal and hearing abnormalities. It is due to mutations in collagen IV α[alpha]3-5 in the lens capsule, retinal internal limiting membrane, Bruch’s membrane, and cochlea.107 Typical dot-and-fleck retinopathy at the macula is thought to be due to reflections from the abnormal internal limiting membrane.108,109 A few patients appear to have mid-peripheral drusen-like lesions, the nature of which is not clear.110 Rarely complement abnormalities are reported in Alport syndrome,111 but there are no reports of abnormal ocular complement activation in Alport syndrome, despite known abnormality in Bruch’s membrane.
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).