Author/Authors :
Abidi, Kamel Nephropediatric Department - Charles Nicolle Hospital, Tunisia , Sayari, Taha Nephropediatric Department - Charles Nicolle Hospital, Tunisia , Jallouli, Manel Nephropediatric Department - Charles Nicolle Hospital, Tunisia , Hammi, Yousra Nephropediatric Department - Charles Nicolle Hospital, Tunisia , Louzir, Rim Goucha Internal Medicine Department - Charles Nicolle Hospital, Tunisia , Gargah, Tahar Nephropediatric Department - Charles Nicolle Hospital, Tunisia
Abstract :
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.
