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Cystinosis beyond kidneys: gastrointestinal system and muscle involvement.

ABSTRACT: BACKGROUND:Cystinosis is a multisystemic disease resulting from cystine accumulation primarily in kidney and many other tissues. We intended to study the evolution of less commonly seen extrarenal complications of cystinosis in a group of patients who have periods without cysteamine treatment. METHODS:Gastrointestinal and muscular complications of cystinosis were studied in a group of 21 patients. RESULTS:Twenty one patients were included in the study. Among them, 14 were homozygous and 3 were compound heterozygous for CTNS mutations. The median age of diagnosis was 15?months (range; 5?months-14?years) and the mean age at last visit was 11.3?±?6.5?years. Nine patients (42%) had end stage renal disease at a mean age of 10.6?years (6.5-17?years). Abdominal ultrasonography and portal vein doppler ultrasonography were performed in19 patients, 14 of them (74%) had hepatomegaly, 10 patients (53%) had granular pattern or heterogeneity of liver. Only one patient had high transaminase levels and liver biopsy showed cystine crystals in the liver. Eleven patients (58%) had borderline or increased portal vein minimum and maximum flow velocities. One patient had CK level of 9024?U/L and electromyographic study showed active myopathic involvement. Two patients were found to have gastroesaphageal reflux only and 4 patients were found to have esophageal remnants in addition to reflux. CONCLUSIONS:In addition to renal functions, extrarenal organs may be affected from cystine accumulation even in childhood, especially in patients who are incompliant to treatment, resulting in complications such as swallowing difficulty, hepatomegaly and portal hypertension.

SUBMITTER: Topaloglu R

PROVIDER: S-EPMC7392712 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature

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Cystinosis beyond kidneys: gastrointestinal system and muscle involvement.

Topaloglu Rezan R Gültekingil Ayşe A Gülhan Bora B Ozaltin Fatih F Demir Hülya H Çiftci Türkmen T Demir Numan N Temucin Çağrı Mesut ÇM Yuce Aysel A Akhan Okhan O

BMC gastroenterology 20200729 1

<h4>Background</h4>Cystinosis is a multisystemic disease resulting from cystine accumulation primarily in kidney and many other tissues. We intended to study the evolution of less commonly seen extrarenal complications of cystinosis in a group of patients who have periods without cysteamine treatment.<h4>Methods</h4>Gastrointestinal and muscular complications of cystinosis were studied in a group of 21 patients.<h4>Results</h4>Twenty one patients were included in the study. Among them, 14 were h ...[more]

PMID: 32727395

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Project description:The musculoskeletal system is significantly more complex than portrayed by traditional reductionist approaches that have focused on and studied the components of this system separately. While bone and skeletal muscle are the two largest tissues within this system, this system also includes tendons, ligaments, cartilage, joints and other connective tissues along with vascular and nervous tissues. Because the main function of this system is locomotion, the mechanical interaction among the major players of this system is essential for the many shapes and forms observed in vertebrates and even in invertebrates. Thus, it is logical that the mechanical coupling theories of musculoskeletal development exert a dominant influence on our understanding of the biology of the musculoskeletal system, because these relationships are relatively easy to observe, measure, and perturb. Certainly much less recognized is the molecular and biochemical interaction among the individual players of the musculoskeletal system. In this brief review article, we first introduce some of the key reasons why the mechanical coupling theory has dominated our view of bone-muscle interactions followed by summarizing evidence for the secretory nature of bones and muscles. Finally, a number of highly physiological questions that cannot be answered by the mechanical theories alone will be raised along with different lines of evidence that support both a genetic and a biochemical communication between bones and muscles. It is hoped that these discussions will stimulate new insights into this fertile and promising new way of defining the relationships between these closely related tissues. Understanding the cellular and molecular mechanisms responsible for biochemical communication between bone and muscle is important not only from a basic research perspective but also as a means to identify potential new therapies for bone and muscle diseases, especially for when they co-exist. This article is part of a Special Issue entitled "Muscle Bone Interactions".

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Cystinosis beyond kidneys: gastrointestinal system and muscle involvement.

Publications

Cystinosis beyond kidneys: gastrointestinal system and muscle involvement.

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