Purpose: The purpose of this study was to report a novel observation during retinal screening of a child with Alport syndrome.
Methods: This was a review of case record and imaging files.
Results: Clinical examination of the retina and standard color fundus photography revealed no abnormality. However, distinct and identical wrinkling of the temporal macula (fingerprint sign) in both eyes was noted on Optos pseudocolor images of the retina. On optical coherence tomography, there were corresponding "saw-tooth" corrugations in the middle layers of the retina. En face images further highlighted the characteristic nature of this unusual observation.
Conclusion: Fingerprint sign in the retina, a heretofore undescribed feature, is reported in a child with biopsy confirmed Alport syndrome.
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http://dx.doi.org/10.1097/ICB.0000000000001265 | DOI Listing |
BMC Pediatr
January 2025
Medical Biochemistry Department, Medical Research and Clinical Studies Institute, National Research Centre, Cairo, Egypt.
Background: Chronic inflammation and its control are crucial to the responses of glomerular and renal tubular cells. This contributes to the pathogenic mechanisms and advancement of the disease in Alport syndrome. The study aimed to elucidate the role of cyclooxygenase-2, Interleukin 4, Plasminogen activating inhibitor 1, and Prostaglandin E2 in the development and course of Alport syndrome.
View Article and Find Full Text PDFFront Pediatr
January 2025
Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Background: Alport syndrome (AS) is a genetically heterogeneous disorder resulting from variants in genes coding for the alpha-3/4/5 chains of Collagen IV, leading to defective basement membranes in the kidney, cochlea, and eye. The clinical manifestations of AS vary in patients. Cases of childhood AS caused by presenting primarily with nephrotic syndrome (NS) are rarely reported.
View Article and Find Full Text PDFCureus
December 2024
Nephrology, Centro Hospitalar de Trás-os-Montes e Alto Douro, Vila Real, PRT.
Exit-site infections (ESIs) of peritoneal dialysis catheters can cause serious complications if not promptly treated. Uncommon pathogens like are infrequently associated with these infections. We report a 26-year-old woman with end-stage renal disease due to Alport syndrome, presenting with recurrent purulent discharge and erythema at the Tenckhoff catheter exit site.
View Article and Find Full Text PDFZhonghua Er Ke Za Zhi
January 2025
Department of Emergency, Xi'an Children's Hospital, Xi'an710003, China.
To explore clinical and genetic features of persistent asymptomatic microscopic hematuria in children. A retrospective case analysis of 135 individuals admitted to Xi 'an Children's Hospital with persistent asymptomatic microscopic haematuria between January 2016 to December 2023 was conducted. The demographic characteristics, kidney pathology and gene results of 135 individuals were analyzed.
View Article and Find Full Text PDFCurr Opin Nephrol Hypertens
January 2025
The University of Melbourne Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne Hospital, Parkville, Victoria, AUSTRALIA.
Purpose Of Review: The recent widespread availability of genetic testing has resulted in the diagnosis of many more people with Alport syndrome. This increased recognition has been paralleled by advances in understanding clinical consequences, genotype-phenotype correlations and in the development of new therapies.
Recent Findings: These include the international call for a change of name to 'Alport spectrum' which better reflects the diverse clinical features seen with autosomal dominant and X-linked Alport syndrome; the demonstration of how common Alport syndrome is in people with haematuria, proteinuria, or kidney failure; the inability of current genetic testing to detect all pathogenic variants in suspected Alport syndrome; the different genotype-phenotype correlations for autosomal dominant and X-linked disease; and the novel treatments that are available including SGLT2 inhibitors for persistent albuminuria despite renin-angiotensin-aldosterone blockade, as well as early studies of gene-modifying agents.
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