Telenutrition Support in Rare Diseases May Have Positive Effects: Spinal Muscular Atrophy Type 2 Case Report

Year 2023, , 293 - 296, 30.12.2023

Mücahit Muslu

https://doi.org/10.18678/dtfd.1324792

Abstract

In this case report, the 6-month telenutrition counseling process of a 13-year-old male patient diagnosed with spinal muscular atrophy type 2 was discussed. Severe malnutrition was observed in the patient, who used a wheelchair and was fed orally. As a result of examining all the findings, a 6-month telenutrition counseling process was started with a diet containing 50 kcal/kg of energy and 1.85 g/kg of protein per day. At the end of the process, the patient’s body weight increased from 30.5 kg to 35 kg, the body mass index increased from 13.6 kg/m2 to 15.6 kg/m2, and the body mass index Z-score value for age increased from -3.04 to -1.75. The family expressed satisfaction with the counseling process. Patients diagnosed with spinal muscular atrophy require medical nutritional therapy counseling. Telenutrition counseling is considered beneficial in reaching patients and ensuring the treatment process.

Keywords

Rare diseases, Spinal muscular atrophy, Nutrition, Telenutrition

Nadir Hastalıklarda Telenütrisyon Desteği Olumlu Etkiler Oluşturabilir: Spinal Musküler Atrofi Tip 2 Olgu Sunumu

Abstract

Bu olgu sunumunda, sipinal muskuler atrofi tip 2 tanısı olan 13 yaşında erkek hastanın 6 ay süren telenütrisyon danışmanlık süreci tartışılmıştır. Tekerlekli sandalye kullanan ve ağızdan beslenen hastada ağır malnütrisyon görülmüştür. Tüm bulguların incelenmesi sonucunda günlük 50 kkal/kg enerji ve 1.85 g/kg protein içeren diyet ile 6 aylık telenütrisyon danışmanlık süreci başlatılmıştır. Süreç sonunda hastanın vücut ağırlığı 30,5 kg’den 35 kg’ye, beden kütle indeksi 13,6 kg/m2’den 15,6 kg/m2’ye ve yaşa göre beden kütle indeksi Z-skoru değeri ise -3,04’den -1,75’e yükselmiştir. Aile danışmanlık sürecinden memnun kaldığını belirtmiştir. Sipinal muskuler atrofi tanılı hastalar tıbbi beslenme tedavisi danışmanlığına ihtiyaç duymaktadır. Hastalara ulaşmak ve tedavi sürecini sağlamak için telenütrisyon danışmanlığının faydalı olabileceği düşünülmektedir.

Keywords

Nadir hastalıklar, Spinal muskuler atrofi, Beslenme, Telenütrisyon

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