Alport syndrome: a rare cause of uraemia

Ghosh, Soumik; Singh, Manavdeep; Sahoo, Ratnakar; Rao, Sachin

doi:10.1136/bcr-2013-201731

Cited by 7 publications

(4 citation statements)

References 16 publications

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“…However, because podocyte foot processes directly attach to the GBM, interactions between podocytes and the GBM seem to be of special importance. Mutations in collagen IV cause Alport syndrome, which is associated with a disrupted GBM and proteinuria (24, 25). Similarly, loss or missense mutations in the laminin-β-2 (LAMB2) gene cause nephrotic syndrome in Pierson syndrome and lead to podocyte distress and injury (26-28).…”

Section: Discussionmentioning

confidence: 99%

Podocytes regulate the glomerular basement membrane protein nephronectin by means of miR-378a-3p in glomerular diseases

Müller-Deile

Dannenberg

Schröder

et al. 2017

Kidney International

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The pathophysiology of many proteinuric kidney diseases is poorly understood, and microRNAs (miRs) regulation of these diseases has been largely unexplored. Here, we tested whether miR-378a-3p is a novel regulator of glomerular diseases. MiR-378a-3p has two predicted targets relevant to glomerular function, the glomerular basement membrane matrix component, nephronectin (NPNT) and vascular endothelial growth factor VEGF-A. In zebrafish (Danio rerio), miR-378a-3p mimic injection or npnt knockdown by a morpholino oligomer caused an identical phenotype consisting of edema, proteinuria, podocyte effacement and widening of the glomerular basement membrane in the lamina rara interna. Zebrafish vegf-A protein could not rescue this phenotype. However, mouse Npnt constructs containing a mutated 3′UTR region prevented the phenotype caused by miR-378a-3p mimic injection. Overexpression of miR-378a-3p in mice confirmed glomerular dysfunction in a mammalian model. Biopsies from patients with focal segmental glomerulosclerosis and membranous nephropathy had increased miR-378a-3p expression and reduced glomerular levels of NPNT. Thus, miR-378a-3p-mediated suppression of the glomerular matrix protein NPNT is a novel mechanism for proteinuria development in active glomerular diseases.

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Section: Discussionmentioning

confidence: 99%

Podocytes regulate the glomerular basement membrane protein nephronectin by means of miR-378a-3p in glomerular diseases

Müller-Deile

Dannenberg

Schröder

et al. 2017

Kidney International

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“…The prevalence of end stage renal disease in women, were although, considered a rarity, but as many as 12% of them with Alport syndrome may progress to end stage renal disease by the age of 40. 8 In Alport syndrome 70% of the patients generally develop renal failure and sensorineural deafness by age 30. The most typical manifestation, which usually affects all males, is persistent microscopic hematuria beginning as early as age 5.…”

Section: Discussionmentioning

confidence: 99%

A case of Alport syndrome

2023

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Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss and ocular abnormalities. It usually manifests as progressive form of glomerular disease that is often associated with sensorineural hearing loss and ocular abnormalities. The defects are caused by mutations in the genes that code for type IV collagen's alpha chains, which are the most important structural elements of basement membranes, including those in the kidney, cochlea, and eye. We present a 37-year-old female known case of chronic kidney disease on medical management came with complaints of shortness of breath and loss of appetite. Her 2 children are also affected. Her renal biopsy showed glomerulosclerosis, splitting, lamination of basement membrane. Pure tone audiometry revealed bilateral sensorineural hearing loss. Slit lamp examination showed bilateral lenticonus and distant direct ophthalmoscopy revealed oil droplet sign which confirms lenticonus with dot and fleck retinopathy. Hence diagnosed as a previously undetected case of Alport syndrome.

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“…The COL4A3 and COL4A4 gene mutations that cause autosomal Alport's syndrome (both recessive and dominant) are located on chromosomal number 2 [4]. The prevalence of Alport syndrome has been estimated at 1:10,000 in live birth for X-linked and 1:50,000 in live birth for autosomal inheritance [5].…”

Section: Discussionmentioning

confidence: 99%

A Case of Alport Syndrome Presented with Bilateral Anterior Lenticonus

Gani¹,

Kumar²,

Akter³

et al. 2022

BIJCROO

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Retinoblastoma is the most common primary intraocular tumor in children with an incidence of 1: 16,000 to 18,000 live birth. Every year worldwide newly detected cases are about 8000 and in India about 1400. It represents 11% of cancer that develop in the first year of life. Current revolutionary management strategy has increased the survival rate of retinoblastoma above 95% in developed country and it is the highest among all pediatric cancer. But still it is a deadly cancer worldwide. Survival from retinoblastoma based on income >90% vs 40% (in high to low income countries). Occurrence of metastases is higher in low-income countries (32% vs 12% in middle-income). Forty three (43%) of global burden lives in 6 countries of Asia (India, China, Indonesia, Pakistan, Bangladesh & Philippines). Mortality rate varies in different continents. An estimated worldwide death rate is more than 40% and most of them from Asia and Africa. Bangladesh is one of the developing countries of the South- East Asia region and retinoblastoma constitutes 83% of all pediatric cancer bellow 4 years of age. For proper management of retinoblastoma with an international standard, establishment of retinoblastoma center consisting of Ocular oncologist, Clinical oncologist, Radiation oncologist, Pediatrician, Oculoplastic surgeon, Retina specialist, Pediatric ophthalmologist, and Ocularist is needed. Management include proper diagnosis, treatment of the disease, genetic counseling, regular follow up, rehabilitation of survivor and screening of sibling. Chittagong Eye Infirmary & Training Complex which is a tertiary center and one of the referral centers of the Bangladesh is treating retinoblastoma since its inception. Due to demand of time the hospital has been reorganized the various facilities to serve retinoblastoma patients with a team approach from 2017. From January 2017 to March 2022 total 304 patients were diagnosed. Among them 132 received VEC (Vincrisrine, Etoposide, Carbplatin) chemotherapy from this center and 79 underwent enucleation with long optic nerve. The hospitals also screen sibling, provide visual and psycho-social rehabilitation of the RB survivors and run awareness program in community level.

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Alport syndrome: a rare cause of uraemia

Cited by 7 publications

References 16 publications

Podocytes regulate the glomerular basement membrane protein nephronectin by means of miR-378a-3p in glomerular diseases

Podocytes regulate the glomerular basement membrane protein nephronectin by means of miR-378a-3p in glomerular diseases

A case of Alport syndrome

A Case of Alport Syndrome Presented with Bilateral Anterior Lenticonus

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