Kidney Transplantation in Alström Syndrome: Case Report

Poli, L.; Arroyo, Gómez-Martino; Garofalo, M.; Janvry, E. Choppin De; Intini, G.; Saracino, A.; Pretagostini, R.; Pietra, F. Della; Berloco, P.B.

doi:10.1016/j.transproceed.2017.02.018

Cited by 10 publications

(7 citation statements)

References 5 publications

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“…Obstructive uropathy is rare. It is reported in the literature a case of successful kidney transplant because of chronic renal failure in a 42-year old man with ALMS [ 67 ].…”

Section: Clinical Presentationmentioning

confidence: 99%

Consensus clinical management guidelines for Alström syndrome

Tahani

Maffei

Dollfus

et al. 2020

Orphanet J Rare Dis

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Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13. ALMS is a multisystem, progressive disease characterised by visual disturbance, hearing impairment, cardiomyopathy, childhood obesity, extreme insulin resistance, accelerated non-alcoholic fatty liver disease (NAFLD), renal dysfunction, respiratory disease, endocrine and urologic disorders. Clinical symptoms first appear in infancy with great variability in age of onset and severity. ALMS has an estimated incidence of 1 case per 1,000,000 live births and ethnically or geographically isolated populations have a higher-than-average frequency. The rarity and complexity of the syndrome and the lack of expertise can lead to delayed diagnosis, misdiagnosis and inadequate care. Multidisciplinary and multiprofessional teams of experts are essential for the management of patients with ALMS, as early diagnosis and intervention can slow the progression of multi-organ dysfunctions and improve patient quality of life. These guidelines are intended to define standard of care for patients suspected or diagnosed with ALMS of any age. All information contained in this document has originated from a systematic review of the literature and the experiences of the authors in their care of patients with ALMS. The Appraisal of Guidelines for Research & Evaluation (AGREE II) system was adopted for the development of the guidelines and for defining the related levels of evidence and strengths of recommendations. These guidelines are addressed to: a) specialist centres, other hospital-based medical teams and staffs involved with the care of ALMS patients, b) family physicians and other primary caregivers and c) patients and their families.

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“…Obstructive uropathy is rare. It is reported in the literature a case of successful kidney transplant because of chronic renal failure in a 42-year old man with ALMS [ 67 ].…”

Section: Clinical Presentationmentioning

confidence: 99%

Consensus clinical management guidelines for Alström syndrome

Tahani

Maffei

Dollfus

et al. 2020

Orphanet J Rare Dis

View full text Add to dashboard Cite

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“…Alström syndrome, ALMS (OMIM 203800), is a multisystemic disorder found with a rare prevalence of < 1 per 1,000,000 individuals in the general population [1][2][3]. Approximately 1200 Alström syndrome cases have been diagnosed worldwide [1,4,5]. The main clinical characteristics of this syndrome are sensorineural hearing loss (SNHL), blindness due to progressive cone-rod dystrophy, short stature, type 2 diabetes mellitus (T2DM), and childhood obesity associated with hyperinsulinemia [6,7].…”

Section: Introductionmentioning

confidence: 99%

“…Although dilated cardiomyopathy (DCM) is the predominant observation in most Alström syndrome patients, additional clinical manifestations such as renal failure, hepatic, pulmonary and urologic dysfunctions are also known to be evident in them [8]. Most clinical manifestations start in early infancy, but the age of onset and severity of symptoms greatly vary in patient groups [5]. The clinical diagnosis of Alström syndrome is usually established based on the clinical features, medical history and positive family history of the affected patient, but overlapping clinical features makes it more challenging.…”

Section: Introductionmentioning

confidence: 99%

“…Alström syndrome is regarded as a classical monogenic disease as it is well established to be caused by pathogenic mutations in the ALMS1 gene, which spans over 23 exons and encodes a 4168 amino acid long protein [2,5,9]. ALMS1 protein is expressed in renal tubules, heart, liver, the organ of Corti, retinal photoreceptors, pancreatic islets, and the hypothalamus region of the brain [10].…”

Section: Introductionmentioning

confidence: 99%

“…It plays a critical role in ciliary function and regulates the cell cycle as well as intracellular transport. To date, more than 250 disease-causing mutations in ALMS1 have been reported in Alström syndrome patients [5,9,11]. Most of them are nonsense or frame shift mutations resulting in premature mRNAs, which are eventually eliminated by a nonsense mediated decay pathway.…”

Section: Introductionmentioning

confidence: 99%

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A novel homozygous ALMS1 protein truncation mutation (c.2938dupA) revealed variable clinical expression among Saudi Alström syndrome patients

et al. 2020

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Introduction: Alström syndrome, ALMS (OMIM 203800) is a rare multi-systemic disease. The characteristic clinical features include blindness due to progressive cone-rod dystrophy, sensorineural hearing loss, type 2 diabetes mellitus, dilated cardiomyopathy, and childhood obesity. The aim of this study was to identify the genetic cause of Alström syndrome in patients who presented with variable clinical characteristics. Material and methods: Clinical phenotyping and whole exome sequencing were performed in Saudi Alström syndrome patients. The Sanger sequencing was done to ascertain the segregation of Alström syndrome causative mutation in the family members. The rare prevalence of this mutation was further established by sequencing an additional 100 healthy Saudi controls. Results: Whole exome sequencing analysis revealed that Alström syndrome patients have inherited a novel homozygous protein truncating mutation (c.2938dupA) in the ALMS1 gene segregated in an autosomal recessive fashion. This variant was absent in healthy controls. Genotype-phenotype analysis showed its interesting association with intra-familial clinical variability with regards to vision abnormalities, age at onset of dilated cardiomyopathy (DCM), obesity and hearing loss symptoms in the Alström syndrome patients. Conclusion: Our findings indicate that the atypical presentation of Alström syndrome, even within siblings, could sometimes lead to clinical misdiagnosis. Hence, the present study emphasizes the utility of exome sequencing to support the clinical diagnosis of Alström syndrome patients.

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