Autosomal Recessively Inherited Familial Primary Spontaneous Pneumothorax: A Large Family with Frequent Consanguineous Marriages

Abstract

A AB BS ST TR RA AC CT T O Ob bj je ec ct ti iv ve e: : The objective of this study is to determine the clinical and hereditary characteristics of Familial Primary Spontaneous Pneumothorax (FPSP) observed in a number of individuals within a large family. M Ma at te er ri ia al l a an nd d M Me et th ho od ds s: : In the medical history of the patient, who applied to the Emergency Department due to a severe difficulty in breathing and was diagnosed with a bilateral Primary Spontaneous Pneumothorax (PSP) and received a bilateral tube thoracostomy performed by the pediatric surgery clinic, it was determined that there were 8 individuals in his family circle who had been affected by PSP disease. All the demographic, clinical, laboratory, radiological, and hereditary data of these individuals were collected. R Re es su ul lt ts s: : In the physical examination of the patients, there were incisional scars of tube thoracostomy and/or thoracoscopy and/or thoracotomy over the rib cages of 6 cases. While the other system examinations and laboratory findings were normal of all patients, seven of the cases have radiological changes at low-and mid-levels -in the lungs in the thoracic computerized tomography. Based on the drawn family tree, we suggest that the FPSP in this family occurred through autosomal recessive heredity. C Co on n--c cl lu us si io on n: : We believe that the PSP seen in this family is familial and transferred through autosomal recessive inheritance and the common consanguineous marriages within the family plays a role in the intensity of the disease. Further research on molecular level is required in order to better understand the precise genetic reasons that are lying under the developed FPSP disease of these eight patients.K Ke ey y W Wo or rd ds s: : Pneumothorax; genetic predisposition to disease Ö ÖZ ZE ET T A Am ma aç ç: : Bu çalışmanın amacı sık akraba evliliklerinin mevcut olduğu geniş bir ailede fazla sayıda bireyde gözlemlenen ailesel primer spontan pnömotoraks'ın (FPSP) klinik ve kalıtımsal özel-liklerini saptamaktır. G Ge er re eç ç v ve e Y Yö ön nt te em ml le er r: : İleri derecede solunum sıkıntısı nedeniyle acil servise müracaat eden ve çocuk cerrahi kliniği tarafından bilateral primer spontan pnömotoraks (PSP) tanısı konarak bilateral tüp torakostomi uygulanan bir bireyin (İndex hasta) anamnez'inde ailesinde, PSP hastalığından etkilenen 8 bireyin mevcut olduğu saptandı. PSP'den etkilenmiş oldukları belirlenen bu bireylerin tüm demografik, klinik, laboratuvar, radyolojik ve kalıtımla ilgili verileri toplandı. B Bu ul lg gu ul la ar r: : Hastaların fizik muayesinde, 6 olguda sağ veya sol göğüs kafesi üzerinde tüp torakostomi ve/veya torakoskopi ve/veya torakotomi insizyon skarları mevcuttu. Diğer sistem muayeneleri ve laboatuvar bulguları normal iken, 7 olguda göğüs bilgisayarlı tomografide, akciğerlerde hafif ve orta düzeyde patolojik değişiklikler saptandı. Çizilen aile ağacına dayanarak bu ailedeki FPSP'ın otozomal resesif kalıtım ile geçtiğini öne sürebiliriz. S So on nu uç ç: : Söz ...