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TINU: A Multisystemic Inflammatory Disorder-Case Report and Literature Review.
Case Rep Nephrol
April 2024
CES University, Medellín, Colombia.
. The syndrome of tubulointerstitial nephritis and uveitis (TINU) is a rare oculorenal condition, mainly seen in children and women. The underlying cause of this disease is unknown.
View Article and Find Full Text PDFA novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement.
BMC Pediatr
November 2023
Department of Pediatric Nephrology and Rheumatism and Immunology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, No. 324 Jingwu Road, Huaiyin District, Jinan, 250021, People's Republic of China.
Background: Joubert syndrome (JS) is a rare genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the "molar tooth sign", and variable organ involvement (such as eye, kidney, liver, and skeleton). Here, we present a case of JS in a Chinese boy.
Case Presentation: An 11-year-old Chinese boy presented with neonatal asphyxiation and hypoxia, strabismus, subsequent developmental delay, ataxia and end-stage kidney disease (ESKD).
Tubulointerstitial Nephritis and Uveitis Syndrome: A Report of 6 Cases with Renal Biopsy and Electron Microscopy Evaluation.
Nephron
April 2024
First Department of Pathology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Tubulointerstitial nephritis with uveitis syndrome is a rare, immune-mediated entity, characterized by oculo-renal inflammation. Diagnosis requires the exclusion of all other causes of tubulointerstitial nephritis (TIN). We present 6 patients with clinical, laboratory, and renal biopsy findings denotative of tubulointerstitial nephritis with uveitis syndrome.
View Article and Find Full Text PDFOcular manifestations in renal diseases.
Indian J Ophthalmol
August 2023
Rochester General Hospital, Centre for Kidney Disease and Hypertension, Rochester, New York, USA.
The eyes and kidneys are the targets for end-organ damage in multiple pathologies. Both these organs develop during the same embryonic stage around the fourth to sixth week of gestation, thus sharing a strong correlation between both eye and kidney diseases. Both the eyes and kidneys can be the target of the systemic disease process; however, the eyes can also be affected as a consequence of renal disease or its treatment.
View Article and Find Full Text PDFLiterature review on the cross-link between ocular and renal disease: renin angiotensin aldosterone system is a main actor.
Eur Rev Med Pharmacol Sci
July 2022
Department of Translational and Precision Medicine, Nephrology Unit, Sapienza University of Rome, Rome, Italy.
Objective: Chronic kidney disease (CKD) and ocular disease share several cardiovascular risk factors as well as pathogenetic mechanisms having Renin-Angiotensin-Aldosterone System (RAAS) as main actor. Moreover, kidney and eyes have common genetic and embryonic origin. In this literature review, we present main evidence supporting this association for early identifying diseases affecting both systems and evaluating potential multi-target therapeutic strategies.
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