Diffuse Mesangial Sclerosis in a Child With Dyskeratosis Congenita Leading to End-stage Renal Disease

• Published in: Iranian journal of kidney diseases Vol. 10; no. 6; p. 416
• Main Authors: Kamel, Abidi, Sayari, Taha, Jellouli, Manel, Hammi, Yousra, Louzir, Rim Ghoucha, Gargah, Tahar
• Format: Journal Article
• Language: English
• Published: Iran Iranian Society of Nephrology 01-11-2016
• Subjects: Bone Diseases - diagnostic imaging; Bone Diseases - etiology; Child; Consanguinity; Disease Progression; Dyskeratosis Congenita - complications; Dyskeratosis Congenita - diagnosis; Dyskeratosis Congenita - diagnostic imaging; Humans; Kidney diseases; Kidney Failure, Chronic - etiology; Male; Nephrotic Syndrome - etiology; Sclerosis - etiology; Tibia - diagnostic imaging
• ISSN: 1735-8582; 1735-8604

Dyskeratosis congenita (DC) is a very rare inherited disorder. It is caused by dysfunction of telomere maintenance. It involves RNA telomerase components relevant to various mutations leading to a classic triad of physical findings consisting of nail dystrophy of the hands and feet, mucosal leukoplakia, and reticular pigmentation of the skin, most commonly on the head, neck, and trunk. Bone marrow failure along with pulmonary complications and malignancies are all common causes of premature death in patients with DC as well as other abnormalities. We report a new case of DC with impure nephrotic syndrome relevant to histopathologic signs of a diffuse mesangial sclerosis, leading to an early end-stage renal disease. Challenges remain to understand the diverse spectrum of DC especially in children. To the best of our knowledge this is the first case of DC associated to diffuse mesangial sclerosis.