遺伝遺伝学: 現在の研究

概要

The Fifth Case of End-Stage Renal Disease in the Same Family Due to Alport's Syndrome

Jamal Qasem Abumwais

Background: Alport’s syndrome includes a group of heterogeneous inherited disorders involving the basement membranes of the kidney and may involve the cochlea and the eye. It is a progressive renal disease characterized by hematuria and progressive renal failure that is often accompanied by sensorineural deafness and/or ocular abnormalities mainly macular flecks and lenticonus. The heterogeneity in clinical and pathological manifestations , age at developing first symptoms, and age at developing renal failure are due to the differences in the mode of inheritance .The mode of inheritance is X-linked in 80%, autosomal recessive in 15%, and autosomal dominant in about 5% of reported cases.

Case presentation: I report the case of a 48 year-old female with a history of kidney insufficiency and hypertension since many years who was admitted to the emergency unit of The Martyr Dr. Khalil Sulaiman Hospital in Jenin city in 13/12/2012 suffering from fatigue, headache, nausea, vomiting, anorexia. Depending on laboratory tests, renal ultrasound image, physical examination, medical history, and family history, the patient was diagnosed with end- stage renal disease due to Alport’s syndrome. Clinical examination revealed no hearing or ocular abnormalities.

Conclusion: From the clinical symptoms as the absence of hearing and ocular abnormalities and from the slow rate of progression to end-stage renal disease in this patient and the other affected members of the family which was presented at a relatively old age, it seems that the mode of inheritance of Alport’s syndrome in this patient and other members of her family is autosomal dominant but genetic studies are needed to confirm this issue. The other members of this family must be screened for kidney functions even who looks like healthy especially that two of them are suffering from hypertension since many years.