Lesch-Nyhan syndrome (english) - meaning, definition, translation, pronunciation

Part of Speech

Noun

Phonetic Transcription

/lɛʃ nɪˈhæn ˈsɪnˌdroʊm/

Meaning

Lesch-Nyhan syndrome is a rare genetic disorder characterized by self-mutilating behavior, elevated uric acid levels, and cognitive impairment. It primarily affects males and is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), which plays a crucial role in purine metabolism.

• Frequency of Use: The term is used infrequently in everyday conversation but is more common in medical, genetic, and psychological contexts.
• Context of Use: The term is mainly utilized in written form, particularly in medical literature and discussions regarding genetic disorders.

Example Sentences

1. Lesch-Nyhan syndrome is a condition that requires lifelong management and understanding.

2. Translation: Лесч-Ниан синдром - это состояние, требующее пожизненного контроля и понимания.

3. Children diagnosed with Lesch-Nyhan syndrome often exhibit both intellectual disabilities and severe behavioral problems.

4. Translation: Дети с диагностированным синдромом Лесч-Ниан часто демонстрируют как умственные недостатки, так и серьезные поведенческие проблемы.

5. Research into therapies for Lesch-Nyhan syndrome is ongoing, as treatment options remain limited.

6. Translation: Исследования терапий для синдрома Лесч-Ниан продолжаются, поскольку варианты лечения остаются ограниченными.

Idiomatic Expressions

While Lesch-Nyhan syndrome itself is not commonly used in idiomatic expressions, the interplay between genetic conditions and healthcare can lead to related phrases in medical discourse.

1. "The patient’s behavior was a tough nut to crack due to complications from Lesch-Nyhan syndrome."

2. Translation: Поведение пациента было загадкой из-за осложнений синдрома Лесч-Ниан.

3. "He found himself in a catch-22 situation when dealing with the care needs of a child with Lesch-Nyhan syndrome."

4. Translation: Он оказался в безвыходном положении, когда дело касалось заботы о ребенке с синдромом Лесч-Ниан.

5. "It's not a walk in the park to manage the symptoms of Lesch-Nyhan syndrome."

6. Translation: Заботиться о симптомах синдрома Лесч-Ниан - это не прогулка в парке.

Etymology

The syndrome is named after two physicians, Dr. William Lesch and Dr. Michael Nyhan, who described it in the 1960s. The condition was first documented in the medical literature in 1964.

Synonyms and Antonyms

• Synonyms: None in common use as it is a specific medical condition.
• Antonyms: There are no applicable antonyms, as it refers to a specific genetic syndrome.

In summary, Lesch-Nyhan syndrome is a serious genetic disorder that has specific implications for diagnosis, treatment, and care management, particularly in male patients. Understanding its symptoms and effects is essential for families and healthcare providers alike.