Misdiagnosed case of transthyretin amyloidosis in a fully investigated patient
Наумова Е. С., Никитин С. С., Adyan T. A., Дружинин Д. С., Варшавский В. А.
Нервно-мышечные болезни
Т. 8, Вып. 1, С. 46-52
Опубликовано: 2018
Тип ресурса: Статья
DOI:10.17650/2222-8721-2018-8-1-46-52
Аннотация:
The DNA analysis revealed a transthyretin amyloidosis with a rare Phe53Leu mutation in a woman of 62 y.o. with the late onset progressive generalized axonal sensomotor neuropathy, dry eye syndrome, and an episode of severe unintentionally weight loss. The same mutation was found in her healthy 34 y.o. son, but not in a 42 y.o. daughter. The Congo red staining were negative in nerve and salivar gland biopsies samples. The reassessment of the transthyretin amyloidosis “red flags” showed that the patient fulfilled the criteria of the disease and the absence of amyloid deposition was not the ground to reject the hereditary cause of the condition. The reasons of the misdiagnosis are discussed. © 2018 ABV-Press Publishing House. All rights reserved.
Ключевые слова:
Amyloidosis; Dry eye syndrome; Nerve biopsy; Phe53Leu; Sensomotor neuropathy; Transthyretin amyloidosis
Язык текста: Русский
ISSN: 2413-0443
Наумова Е. С.
Никитин С. С.
Adyan T. A.
Дружинин Д. С.
Варшавский В. А. Владимир Анатольевич 1941-
Naumova E. S.
Nikitin S. S.
Адян Т. А.
Druzhinin D. S.
Varshavskij V. A. Vladimir Anatolyevich 1941-
Misdiagnosed case of transthyretin amyloidosis in a fully investigated patient
Текст визуальный непосредственный
Нервно-мышечные болезни
Издательский дом "АБВ-пресс"
Т. 8, Вып. 1 С. 46-52
2018
Статья
Amyloidosis Dry eye syndrome Nerve biopsy Phe53Leu Sensomotor neuropathy Transthyretin amyloidosis
The DNA analysis revealed a transthyretin amyloidosis with a rare Phe53Leu mutation in a woman of 62 y.o. with the late onset progressive generalized axonal sensomotor neuropathy, dry eye syndrome, and an episode of severe unintentionally weight loss. The same mutation was found in her healthy 34 y.o. son, but not in a 42 y.o. daughter. The Congo red staining were negative in nerve and salivar gland biopsies samples. The reassessment of the transthyretin amyloidosis “red flags” showed that the patient fulfilled the criteria of the disease and the absence of amyloid deposition was not the ground to reject the hereditary cause of the condition. The reasons of the misdiagnosis are discussed. © 2018 ABV-Press Publishing House. All rights reserved.