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Chapter-50 Familial Glomerulopathies

BOOK TITLE: Principles and Practice of Pediatric Nephrology

Author
1. Gulati Sanjeev
2. Ahmed M
ISBN
9788180613043
DOI
10.5005/jp/books/11074_50
Edition
1/e
Publishing Year
2004
Pages
10
Author Affiliations
1. Fortis Hospitals, Sector B, Pocket 1, Aruna Asaf Ali Marg, New Delhi, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India, Sanjay Gandhi Post Graduate Institute of Medical Research, Lucknow, e-mail: sgulati@sgpgi.ac.in, Fortis Institute of Renal Sciences and Transplantation, New Delhi, India, Fortis Hospitals, New Delhi, Fortis Escorts Heart Institute and Fortis Flt Lt Rajan Dhall Hospital, New Delhi, India, Chirayu Medical College; Sarvottam Hospital, Bhopal, Madhya Pradesh, India
2. Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
Chapter keywords

Abstract

Many hereditary or familial renal disorders have predominantly or only glomerular involvement. This chapter discusses diseases other than Alport’s syndrome and conginetial nephrotic syndrome, which will be discussed elsewhere. Fabry’s disease is also known as Anderson-Fabry’s disease or angiokeratoma corporis diffusum universale. Disease is named after German dermatologist Fabry (1898) and British physician Anderson (1898) who described the skin lesions and other clinical features of the disease, separately at the same time. Aetiopathogenesis is X-linked hereditary disorder of glycosphingolipid metabolism due to deficiency of lysosomal enzyme α galactosidae A, which is essential for the catabolism of ceremide trihexoside, which leads to accumulation of ceremide trihexoside in many organs especially kidneys, vessel wall, skin, nerve, heart, etc. Glycosphingolipid deposition at myocardium, conduction tissues, coronary artery, aorta and valvular leaflets, etc. leads to various arrhythmias and coronary artery disease.

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