Bir Nöromüsküler Hastalıklar Merkezinden Herediter Polinöropati Hastalarının Klinik, Elektrofizyolojik ve Genetik Profili

Yıl 2022, Cilt: 8 Sayı: 1, 68 - 74, 01.01.2022

Onur Akan Tuğçe Aksu Uzunhan Biray Ertürk Leyla Baysal Kıraç

https://doi.org/10.53394/akd.1037759

Öz

ÖZ
Giriş/Amaç:Herediter polinöropati ön tanılı olguların klinik ve elektrofizyolojik özelliklerinin gözden geçirilmesi
Gereç ve Yöntemler:Erişkin ve çocuk nöroloji kliniklerinde takip edilen ve tıbbi genetik laboratuvarına rutin tanı testi amacıyla yönlendirilen herediter polinöropati ön tanılı 75 hastanın dosyaları retrospektif olarak incelendi. Olgular, genetik test sonuçlarına göre Charcot Marie Tooth (CMT) 1A, herediter basınca duyarlı polinöropati (HNPP) ve mutasyon saptanmayanlar şeklinde üç gruba ayrılarak klinik özellikleri ve elektrofizyolojik bulgularına göre değerlendirildi.
Bulgular:Çalışmaya alınan 45 (%60) erkek, 30 (%40) kadın toplam 75 olgunun yaş ortalaması 42,87±16,82 (6-78) idi. Yirmi beş olguda CMT 1A, 10 olguda HNPP olmak üzere hastaların %46’sında genetik inceleme ile tanıya ulaşıldı. CMT 1A hastalarında en sık saptanan nörolojik muayene bulgusu distal kas atrofisi ve arefleksi/hiporefleksi olup bunların 21’inde ayak deformitesi mevcuttu. Diğer taraftan HNPP tanısı alan hastalarda en sık nörolojik muayene bulgusu birden fazla periferik sinirde duyu kaybı ile birlikte asimetrik distal kuvvetsizlik olup bu olguların ikisinde ayak deformitesi tespit edildi. Mutasyon saptanmayan 40 olgunun nörolojik muayenelerinde ise yine en sık bulgu distal kas atrofisi ve arefleksi/hiporefleksi idi. Aile öyküsü alınmayan 4 olguda CMT 1A, 3 olguda ise HNPP saptandı.

Sonuç:Aile öyküsü negatif olsa da spesifik klinik ve elektrofizyolojik ipuçları varlığında hastaların uygun genetik testlere yönlendirilmesi önemlidir.

Anahtar Sözcükler: Herediter polinöropati, Charcot-Marie-Tooth (CMT) hastalığı, PMP 22 gen mutasyonu, Elektromiyografi

Anahtar Kelimeler

Herediter polinöropati, Charcot-Marie-Tooth (CMT) hastalığı, PMP 22 gen mutasyonu, Elektromiyografi

Clinical, Electrophysiological and Genetic Profıle of Hereditary Polyneuropathy Patients From a Single Center of Neuromuscular Diseases

Öz

Objective:To assess the clinical and electrophysiological features of patients with a pre-diagnosis of hereditary polyneuropathy.

Methods:The files of 75 patients with a pre-diagnosis of hereditary polyneuropathy who were followed up in adult and pediatric neurology clinics and referred to the medical genetics laboratory for routine diagnostic testing were retrospectively reviewed. According to the genetic results, the cases were divided into three groups as Charcot Marie Tooth (CMT 1A), hereditary neuropathy with liability to pressure palsies (HNPP), and those without the mutation. The clinical features and electrophysiological findings of the patients were evaluated.

Results:A total of 75 cases, 45 (60%) male and 30 (40%) female, were included in the study. The mean age of the patients was 42.87 ± 16.82 (6-78). The diagnosis was achieved by genetic examination in 46% of the patients, including CMT 1A in 25 cases and HNPP in 10 cases. The most common neurological examination findings in CMT 1A patients were distal muscle atrophy and areflexia/ hyporeflexia, and 21 of these CMT 1A patients had foot deformity. The most common neurological examination finding in patients diagnosed with HNPP was asymmetric distal weakness with loss of sensation in more than one peripheral nerve and foot deformity was detected in two of these cases. CMT 1A was detected in 4 cases and HNPP was detected in 3 cases without a family history.

Conclusion:Although the family history is negative, it is important to refer patients to appropriate genetic tests in the presence of specific clinical and electrophysiological clues.

Key Words: Hereditary polyneuropathy, Charcot-Marie-Tooth (CMT) disease, PMP 22

gene mutation, Electromyography

Anahtar Kelimeler

Hereditary polyneuropathy, Charcot-Marie-Tooth (CMT) disease, PMP 22 gene mutation, Electromyography

Kaynakça

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