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Endocrine Abstracts (2018) 56 P642 | DOI: 10.1530/endoabs.56.P642

1Endocrinology Department, Hedi Chaker Hospital, Sfax, Tunisia; 2Laboratory of Molecular and Functional Genetics, Faculty of Sciences, Sfax, Tunisia.


Introduction: Primary amyloidosis is a multi-systemic disease difficult to identify given the diversity of the disorders that it can cause especially at an early stage of the disease. This makes its diagnosis difficult in case of association with a pathology that can be intricate with its clinical expression. In this context we report the first case in the literature associating mitochondrial diabetes (DM) with a primary amyloidosis

Case: A 32 years old girl, with family history of diabetes and maternal transmission, refer to our service for diabetes of primo discovery revealed by a frank hyperglycaemia without ketosis. The negativity of anti-beta cell antibodies and the presence of extra-pancreatic manifestations at type of bilateral perception deafness, sensitivomotor neuropathy, glomerular nephropathy and the presence of jagged red fibers characteristic of mitochondrial cytopathy on muscle biopsy, led us to retain the diagnosis of a DM. The biomolecular study then confirmed the mutation most frequently described in the literature: m.3243A> G (tRNA Leu) in the mitochondrial genome. Moreover, in front of the echocardiography appearance of concentric hypertrophic cardiomyopathy, with hyperechoic and brilliant granite appearance, unusual in DM and suggestive of overload cardiomyopathy, a biopsy of the salivary glands was performed and confirming the presence of a primary amyloidosis.

Discussion and conclusion: The association of DM with amyloidosis has never been described in the literature. Such an association may be a prototype of interrelation between the nuclear genome involving genes having a key role in the metabolism of amyloid deposits and the mitochondrial genome thus inducing a vicious circle that can sustain a process of cellular apoptosis induced by an alteration of the dynamism of the intra-mitochondrial respiratory chain already reported in vitro. Certainly the progress of molecular biology and a better understanding of signaling signals of intracellular proteins allowing clarifying the etiopathogenic link of such an association.

Volume 56

20th European Congress of Endocrinology

Barcelona, Spain
19 May 2018 - 22 May 2018

European Society of Endocrinology 

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