Severe restless legs syndrome in a family with Alport syndrome

Background Restless legs syndrome (RLS) is a common sleep-related movement disorder characterized by an urge to move the legs during inactivity, especially at evening-night. RLS is highly prevalent in patients with kidney failure and have an impact on quality of life, mood, sleep quality and overall...

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Vydáno v:	BMC nephrology Ročník 22; číslo 1; s. 249 - 6
Hlavní autoři:	Sparasci, Davide, Rossinelli, Andrea, Ferri, Raffaele, Cippà, Pietro, Rinaldi, Andrea, Manconi, Mauro
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	London BioMed Central 05.07.2021 BioMed Central Ltd Springer Nature B.V BMC
Témata:	Actigraphy Adult Aged Aged, 80 and over Agonists Alport syndrome Alport's syndrome Augmentation Case Report Case Reports Case studies Chronic illnesses Chronic kidney disease Collagen Collagen (type IV) Deafness Disease Dopamine Dopamine Agonists - adverse effects Dopamine Agonists - therapeutic use Drug dosages Exercise Familial diseases Families & family life Female Females Fitness training programs Genetic Diseases, X-Linked - complications Genetic Diseases, X-Linked - diagnosis Genetic Diseases, X-Linked - physiopathology Genetic Diseases, X-Linked - therapy Hallucinations Hematuria Hemodialysis Hereditary diseases Humans Internal Medicine Kidney diseases Kidney Transplantation Leg Lenticonus Male Medicine Medicine & Public Health Middle Aged Mood Movement disorders Mutation Narcotics Nephritis, Hereditary - complications Nephritis, Hereditary - diagnosis Nephritis, Hereditary - physiopathology Nephritis, Hereditary - therapy Nephrology Patient Compliance Patients Pedigree Peritoneal dialysis Peritoneum Polysomnography Quality of Life Renal Dialysis Renal failure Restless legs syndrome Restless Legs Syndrome - complications Restless Legs Syndrome - diagnosis Restless Legs Syndrome - drug therapy Restless Legs Syndrome - physiopathology Sleep Sleep - physiology Young Adult Switzerland Augmentation Restless legs syndrome Chronic kidney disease Alport syndrome
ISSN:	1471-2369, 1471-2369
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Shrnutí:	Background Restless legs syndrome (RLS) is a common sleep-related movement disorder characterized by an urge to move the legs during inactivity, especially at evening-night. RLS is highly prevalent in patients with kidney failure and have an impact on quality of life, mood, sleep quality and overall on compliance to the dialysis. Alport syndrome (AS) is a rare inherited disease, predominantly X-linked, secondary to mutations in genes encoding α3, α4 or α5 chains of type IV collagen, and characterized by hematuria, chronic kidney disease, neurosensory deafness, and lenticonus. Case presentation Here we describe a family with a combination of X-linked AS and severe RLS accompanied by periodic limb movements during sleep (PLMS). In the first patient we identified, RLS was complicated by a paradoxical response to dopamine agonists named “augmentation”, leading to sleep disruption, hallucinations and five peritoneal perforations during the peritoneal dialysis due to the difficulty to rest still. Therapeutic adjustments and renal transplantation improved RLS and PLMS. In two brothers, severe RLS prevented a compliance with hemodialysis. Female family members carrying the mutation were also affected by RLS, while those without the mutations were RLS-free. Conclusions RLS has not been reported earlier in association with AS, but the peculiar combinations observed in this family will stimulate further clinical studies and motivate nephrologists to seek for RLS symptoms and sleep disturbances in AS patients.
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Report-3 ObjectType-Case Study-4 ObjectType-Case Study-2 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	1471-2369 1471-2369
DOI:	10.1186/s12882-021-02455-2