Лікарі “Охматдиту” діагностували складний діагноз у дитини – тубулопатію

‼️Рідкісні діагнози для нашої лікарні не є викликом. #Клініка_захворювань_та_реабілітації_дітей_раннього_віку береться за встановлення найскладніших діагнозів у дітей, залучаючи до цього усіх потрібних фахівців медичної справи. І нещодавний випадок цьому підтвердження.

#Тубулопатія

‼️захворювання або синдроми, в основі, яких лежать порушення обміну ферментних систем в організмі, що приводять до ушкодження канальцевої секреції або реабсорбції.

🩺Рідкісне генетичне захворювання, діагностувати яке досить важко.

Все почалося з того, що у приймальне відділення нашої лікарні звернулися батьки із півторамісячним хлопчиком Максимчиком.

😔Родина родом із Харкова, змушена втікати від війни в одну із відносно спокійніших областей Західної України, де і запідозрили вроджену аномалію розвитку нирок.

🚑До нашої лікарні Максимко був скерований для повного урологічного обстеження, але при огляді дитини у приймальному відділенні, клінічно виступали на перший план ознаки різкого зневоднення, м’язевої гіпотонії, виражені ознаки інтоксикації, млявість, апатія, дефіцит маси тіла. Оскільки ми зробили висновок, що у дитини є ознаки білково-енергетичної недостатності, то вона поступила одразу до реанімаційного відділення для нормалізації стану.

🩺Коли було проведено ряд перших обстежень, то виявилося, що у дитини виражений метаболічний ацидоз. Тобто, порушена кислотно-лужна рівновага організму і електролітні розлади – зменшений рівень калію в крові, підвищений рівень кальцію.

🩺 «І фактично ця порушена рівновага наштовхнула нас на клінічний і діагностичний пошук ймовірного захворювання. Бо у дитини були стійкі зміни в аналізі сечі: поліурія, протеїнурія, лейкоцитурія, кальціємія і гіпокаліємія, плюс переважаючі ознаки метаболічного ацидозу. Все це в комплексі наштовхнуло нас на думку, що можливо у дитини одна із видів тубулопатії, яка зустрічається доволі рідко і важко діагностується у дітей», – прокоментувала керівниця Клініки Оксана Короляк.

👩‍⚕️Діагностичний пошук лікарів сягнув далі – медики почали забір аналізів на специфічні обстеження, моніторити електролітний обмін, гази крові, що в комплексі підтвердило рідкісне і важке захворювання. Дитина була додатково проконсультована ендокринологом, генетиком та головним нефрологом України, професором Дмитром Івановим, а скринінгові обстеження надіслані до однієї із клінік США.

🩺Весь цей час дитина отримувала терапію, коригувався її електролітний обмін, коригувалися гази крові, лужна рівновага тощо і на цьому тлі дитині ставало краще.

🩺 У Максимка збільшилася вага, зникли прояви інтоксикації, він ставав активніший, у нього нормалізувалися усі електролітні розлади, санувалася сеча, йому було проведено ще ряд обстежень та заходів для покращення стану здоров’я і через півтори місяці перебування у Клініці хлопчик у задовільному стані був виписаний додому.

💬За кілька днів після виписки прийшло і підтвердження діагнозу із США – тубулопатія: нирковий тубулярний ацидоз II типу. Сьогодні Максимко під постійним спостереженням нефролога, ендокринолога та генетика, відвідує Катамнестичний центр «Малюк» нашої лікарні.

💬«Максимчик має шанс на повноцінне життя, приймаючи коригуючу терапію. Специфічного лікування тут немає, адже у його нирках внаслідок метаболічних розладів утворюються камінчики – нефрокальцинати, які не дають повноцінно працювати нирці. Це генетичне захворювання, яке в тому числі може бути пов’язане із недостатністю паращитовидних залоз. Тобто, дослідження тривають», – розповідає лікарка.

🙏Ми бажаємо нашому Максимку подолати цю недугу, батькам витримки та сил пройти цей не простий шлях разом!

Звертайтеся до нашої дитячої лікарні:

Вул. Лисенка, 31

067 76 000 31

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