Cystinosis: a review.

Mohamed A Elmonem,Lambertus P Van Den Heuvel,Maria Van Dyck,Elena Levtchenko,Neveen A Soliman,Koenraad R Veys

doi:10.1186/s13023-016-0426-y

Abstract

Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment. Defective cystinosin function leads to intra-lysosomal cystine accumulation in all body cells and organs. The kidneys are initially affected during the first year of life through proximal tubular damage followed by progressive glomerular damage and end stage renal failure during mid-childhood if not treated. Other affected organs include eyes, thyroid, pancreas, gonads, muscles and CNS. Leucocyte cystine assay is the cornerstone for both diagnosis and therapeutic monitoring of the disease. Several lines of treatment are available for cystinosis including the cystine depleting agent cysteamine, renal replacement therapy, hormonal therapy and others; however, no curative treatment is yet available. In the current review we will discuss the most important clinical features of the disease, advantages and disadvantages of the current diagnostic and therapeutic options and the main topics of future research in cystinosis.

Highlights

Cystinosis was first described in literature in 1903 by the Swiss biochemist Emil Abderhalden (1877–1950) as the familial cystine accumulation disease [1]
Abderhalden referred to a child initially encountered by Eduard Kaufmann, Basel, Switzerland (1860–1931). This patient died at the age of 21 months with massive cystine accumulation in multiple organs that were discovered at the postmortem examination
Cystinosis was recognized in the literature as the Lignac-Fanconi syndrome

Summary

Introduction

Cystinosis was first described in literature in 1903 by the Swiss biochemist Emil Abderhalden (1877–1950) as the familial cystine accumulation disease [1]. Abderhalden referred to a child initially encountered by Eduard Kaufmann, Basel, Switzerland (1860–1931) This patient died at the age of 21 months with massive cystine accumulation in multiple organs that were discovered at the postmortem examination. The Dutch pathologist George Lignac (1891–1954) was the first to provide a clear systematic description of the disease in 1924, and the first to associate cystinosis with its major clinical manifestations such as rickets, renal disease and growth retardation [2]. This is why cystinosis was initially termed as the Abderhalden-Kaufmann-Lignac syndrome. Cystinosis was recognized in the literature as the Lignac-Fanconi syndrome

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