Evaluation of the Cases We Followed with the Diagnosis of Sphingolipidosis: Single Center Experience

Abstract

In this study, it was aimed to evaluate the clinical, demographic and laboratory data of the patients we followed up with the diagnosis of sphingolipidosis. Thirty-four patients who were followed up with the diagnosis of sphingolipidosis in Bursa Uludag University Faculty of Medicine, Department of Pediatric Metabolism Diseases were evaluated retrospectively. Admission complaints, age at diagnosis, last evaluation age, gender, level of consanguinity between parents, sibling death history, enzyme levels, genetic results were recorded from the files of the patients. The mean age at the last evaluation of the patients was 17.9±18.4 years (range 0.2-57 years), and the mean age at diagnosis was 13.6±17.8 years (range 0.1-56 years). Of the 34 patients we followed with the diagnosis of sphingolipidosis, 10 (29%) Fabry disease, 6 (17%) GM-1 gangliosidosis, 5 (15%) metachromatic leukodystrophy, 4 (12%) Niemann Pick type C, 3 (9%) GM-2 gangliosidosis, 2 (6%) Gaucher, 2 (6%) Niemann Pick type A, 2 (6%) Niemann Pick type B disease were detected. 5 (14.7%) of our cases were died. Of the cases, 21 (61.8%) were male and 13 (38.2%) were female. There was a history of consanguinity between the parents in 20 (58.8%) cases. The age of diagnosis of the patients was between 1 month and 56 years. Fifteen (44.1%) of the patients had a family history of the same disease, and 8 (23.5%) had a sibling death. 24 (70.5%) patients had neuromotor retardation, 11 (32.3%) patients had a history of seizures. Cardiac involvement was present in 13 (38.2%) of all cases, and ocular involvement was found in 12 (35.2%) cases. Fifteen (44.1%) patients have hepatosplenomegaly. A total of 10 patients (%29.4), 8 of whom were diagnosed with Fabry and 2 with Gaucher, were receiving enzyme replacement therapy. The diagnosis of the patients was confirmed by specific enzyme levels and genetic analysis. In conclusion, Fabry disease was the most common type with 29.4% in our study. A patient followed up with the diagnosis of Fabry was diagnosed with ocular findings when she was 5 years old, and all of the other patients were diagnosed in adulthood.

Keywords

• sphingolipidosis
• enzyme replacement therapy
• family history

Sfingolipidoz Tanısı ile İzlediğimiz Olguların Değerlendirilmesi: Tek Merkez Deneyimi

Abstract

Bu çalışmada sfingolipidoz tanısı ile izlediğimiz hastaların klinik, demografik ve laboratuvar verilerinin değerlendirilmesi amaçlanmıştır. Bursa Uludağ Üniversitesi Tıp Fakültesi Çocuk Metabolizma Hastalıkları Bilim Dalında sfingolipidoz tanısı ile izlediğimiz 34 hasta geriye yönelik olarak değerlendirilmiştir. Hastaların dosyalarından başvuru şikâyetleri tanı yaşları, son değerlendirme yaşları, cinsiyetleri, anne-baba arasındaki akrabalık düzeyi, kardeş ölüm öyküsü, enzim düzeyleri, genetik sonuçları değerlendirmeye alınmıştır. Hastaların son değerlendirme yaş ortalaması 17,9±18,4 yıl (dağılım 0,2-57 yıl), tanı alma yaş ortalaması 13,6±17,8 yıl (dağılım 0,1-56 yıl) olarak saptanmıştır. Sfingolipidoz tanısı ile izlediğimiz 34 hastadan 10’u (%29) Fabry hastalığı, 6’sı (%17) GM-1 gangliosidoz, 5’i (%15) metakromatik lökodistrofi, 4’ü (%12) Niemann Pick tip C, 3’ü (%9) GM-2 gangliosidoz, 2’si (%6) Gaucher, 2’si (%6) Niemann Pick tip A, 2’si (%6) Niemann Pick tip B hastalığı tanısı almıştır. Beş (%14,7) olgumuz exitus olmuştur. Olguların 21’i (%61,8) erkek, 13’ü (%38,2) kızdır. 20 (%58,8) olguda anne-baba arasında akrabalık öyküsü vardır. Hastaların tanı yaşı 1 ay ile 56 yıl arasındadır. Hastaların 15’inde (%44,1) ailede aynı hastalık tanılı birey, 8’inde (%23,5) ise kardeş ölüm öyküsü vardır. 24 (%70,5) hastada nöromotor gerilik, 11 (%32,3) hastada nöbet öyküsü vardır. Tüm olguların 13’ünde (%38,2) kardiyak tutulum, 12’sinde (%35,2) göz tutulumu vardır. Hastaların 15’inde (%44,1) hepatosplenomegali vardır. 8’i Fabry, 2’si Gaucher tanılı 10 (%29,4) hasta enzim replasman tedavisi almaktadır. Hastaların tanısı spesifik enzim düzeyleri ve genetik analiz ile kesinleştirilmiştir. Sonuç olarak, çalışmamızda Fabry hastalığı %29,4 ile en sık izlenen tiptir. Fabry tanısı ile izlenen bir hasta 5 yaşında iken göz bulgusu ile tanı almış olup, diğer hastaların tamamı erişkin yaşlarda tanı almıştır.

Keywords

• sfingolipidoz
• enzim replasman tedavisi
• aile öyküsü.

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