Proteus syndrome in a child aged 14 years and 11 months
Proteus syndrome is an extremely rare genetic disorder with problematic genetic identification. It has been hypothesized that it is related to a lethal dominant somatic mutation occurring at a post-zygotic stage of embryonic development. Clinical presentation of the disease has much in common with a...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | Russian |
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MONIKI
2017-02-01
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| Series: | Alʹmanah Kliničeskoj Mediciny |
| Subjects: | |
| Online Access: | https://www.almclinmed.ru/jour/article/view/475 |
| _version_ | 1819138999805018112 |
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| author | T. V. Elizarova N. I. Zryachkin S. A. Khmilevskaya G. V. Zaytseva M. A. Kuznetsova N. S. Avdonchenkova |
| author_facet | T. V. Elizarova N. I. Zryachkin S. A. Khmilevskaya G. V. Zaytseva M. A. Kuznetsova N. S. Avdonchenkova |
| author_sort | T. V. Elizarova |
| collection | DOAJ |
| description | Proteus syndrome is an extremely rare genetic disorder with problematic genetic identification. It has been hypothesized that it is related to a lethal dominant somatic mutation occurring at a post-zygotic stage of embryonic development. Clinical presentation of the disease has much in common with a number of hereditary disorders and is frequently associated with malignancies. We present a clinical case of Proteus syndrome in a child aged 14 years and 11 months, in whom late diagnosis and late administration of specific treatment resulted in disease progression with the development of the end stage chronic renal disease. Only correct and early diagnosis allows for timely referral of a patient to a specialized hospital for adequate care. |
| first_indexed | 2024-12-22T11:15:42Z |
| format | Article |
| id | doaj.art-006dfadbbddc4d2cacb6e2d7cbf2bc4c |
| institution | Directory Open Access Journal |
| issn | 2072-0505 2587-9294 |
| language | Russian |
| last_indexed | 2024-12-22T11:15:42Z |
| publishDate | 2017-02-01 |
| publisher | MONIKI |
| record_format | Article |
| series | Alʹmanah Kliničeskoj Mediciny |
| spelling | doaj.art-006dfadbbddc4d2cacb6e2d7cbf2bc4c2022-12-21T18:28:01ZrusMONIKIAlʹmanah Kliničeskoj Mediciny2072-05052587-92942017-02-01451566110.18786/2072-0505-2017-45-1-56-61423Proteus syndrome in a child aged 14 years and 11 monthsT. V. Elizarova0N. I. Zryachkin1S. A. Khmilevskaya2G. V. Zaytseva3M. A. Kuznetsova4N. S. Avdonchenkova5Saratov State Medical University named after V.I. RazumovskySaratov State Medical University named after V.I. RazumovskySaratov State Medical University named after V.I. RazumovskySaratov State Medical University named after V.I. RazumovskySaratov State Medical University named after V.I. RazumovskyEngels Children's HospitalProteus syndrome is an extremely rare genetic disorder with problematic genetic identification. It has been hypothesized that it is related to a lethal dominant somatic mutation occurring at a post-zygotic stage of embryonic development. Clinical presentation of the disease has much in common with a number of hereditary disorders and is frequently associated with malignancies. We present a clinical case of Proteus syndrome in a child aged 14 years and 11 months, in whom late diagnosis and late administration of specific treatment resulted in disease progression with the development of the end stage chronic renal disease. Only correct and early diagnosis allows for timely referral of a patient to a specialized hospital for adequate care.https://www.almclinmed.ru/jour/article/view/475proteus syndromepolycystic kidney diseaserenal cell carcinomamacrodactyliametacarpal bone deviation"senile" handnevusmultiple papillomas |
| spellingShingle | T. V. Elizarova N. I. Zryachkin S. A. Khmilevskaya G. V. Zaytseva M. A. Kuznetsova N. S. Avdonchenkova Proteus syndrome in a child aged 14 years and 11 months Alʹmanah Kliničeskoj Mediciny proteus syndrome polycystic kidney disease renal cell carcinoma macrodactylia metacarpal bone deviation "senile" hand nevus multiple papillomas |
| title | Proteus syndrome in a child aged 14 years and 11 months |
| title_full | Proteus syndrome in a child aged 14 years and 11 months |
| title_fullStr | Proteus syndrome in a child aged 14 years and 11 months |
| title_full_unstemmed | Proteus syndrome in a child aged 14 years and 11 months |
| title_short | Proteus syndrome in a child aged 14 years and 11 months |
| title_sort | proteus syndrome in a child aged 14 years and 11 months |
| topic | proteus syndrome polycystic kidney disease renal cell carcinoma macrodactylia metacarpal bone deviation "senile" hand nevus multiple papillomas |
| url | https://www.almclinmed.ru/jour/article/view/475 |
| work_keys_str_mv | AT tvelizarova proteussyndromeinachildaged14yearsand11months AT nizryachkin proteussyndromeinachildaged14yearsand11months AT sakhmilevskaya proteussyndromeinachildaged14yearsand11months AT gvzaytseva proteussyndromeinachildaged14yearsand11months AT makuznetsova proteussyndromeinachildaged14yearsand11months AT nsavdonchenkova proteussyndromeinachildaged14yearsand11months |