Cystic lung disease [10 genes]

Pulmonary cystic diseases constitute a heterogeneous group of diseases with a difficult diagnosis, radiologically characterized by the presence of air spaces surrounded by a thin wall in the lung parenchyma. These alterations cause loss of functional capacity, respiratory failure, and, frequently, pneumothorax. Some of these entities have a cause with a genetic basis. Among these are lymphangioleiomyomatosis associated with tuberous sclerosis (LAM), Birt-Hogg-Dubé syndrome, neurofibromatosis type 1, Ehlers-Danlos type IV syndrome, and cutis laxa.
In this group of pathologies the study of alpha-1 antitrypsin deficiency is included because, though radiological affectation appears in the form of emphysema and not in the form of cysts, conditions may arise in which the differential diagnosis with other described entities may be considered

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Lymphangioleiomyomatosis (LAM):
Cystic disease almost exclusive in women that, in its genetic form, presents dominant autosomal inheritance, associated with tuberous sclerosis complex (TSC-LAM). Mutations in the TSC1 or TSC2 genes cause the loss of the regulating function of the cell growth of the mTOR pathway, which is implicated in the formation of tumors. An infiltration of the pulmonary tissue is produced by smooth muscle cells that are dispersed through the lymphatic and blood system. It appears in approximately 80% of women older than 40 years of age with tuberous sclerosis. The disease’s progression leads to the presence of shortness of breath and, frequently, it is associated with extrapulmonary manifestations with benign tumor formations cerebral, cutaneous, kidney, and cardiac localization.
Also with malign tumors, but with less frequency.
Cutis laxa (CL):
In its hereditary form it is produced by mutations in the ELN, FBLN5, EFEMP2, and LTBP4 genes, which are related with the synthesis of the protein matrix in tissues. Is has an estimated prevalence of 1/1,000,000 live newborns. It presents autosomal dominant (ADCL) and autosomal recessive (ARCL) inheritance forms, the latter being the most severe forms; apart from the pulmonary affectation in the form of cysts and emphysema, it is associated with cutaneous lesions with abundant wrinkled and flaccid skin, alterations in development, and vascular, digestive, genitourinary, and skeletal malformations, that occasionally may be severe.
Neurofibromatosis type 1 (NF1), Birt-Hogg-Dubé syndrome (FLCN), and Ehlers-Danlos syndrome type IV (COL3A1):
They all have an autosomal dominant inheritance pattern and, also, they are hereditary disorders that have a difficult diagnosis that can be associated to defects in the pulmonary tissue with the forming of cysts, blisters, or emphysema, and clinically presents as pneumothorax, dyspnea, and respiratory failure.

  • COL3A1
  • EFEMP2
  • ELN
  • FBLN5
  • FLCN
  • LTBP4
  • NF1
  • SERPINA1
  • TSC1
  • TSC2

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Emilio Ansótegui Barrera, Nuria Mancheño Franch, Francisco Vera-Sempere y José Padilla Alarcón. Linfangioleiomiomatosis. Arch Bronconeumol. 2011;47(2):85–93
  2. Miravitlles M, Dirksen A, Ferrarotti I, Koblizek V, Lange P, Mahadeva R,McElvaney NG, Parr D, Piitulainen E, Roche N, Stolk J, Thabut G, Turner A,Vogelmeier C, Stockley RA. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α(1)-antitrypsin deficiency. Eur Respir J. 2017 Nov 30;50(5).
  3. A.A. Dal Sasso, L.C. Belém, G. Zanetti, C.A. Souza, D.L. Escuissato, K.L. Irion, et al. Birt-Hogg-Dubé syndrome. State-of-the-art review with emphasis on pulmonary involvement. Respir Med, 109 (2015), pp. 289-29
  4. F.M. von Ranke, G. Zanetti, J.L. Silva, C.A. Neto, M.C. Godoy, C.A. Souza, et al. Tuberous sclerosis complex: State-of-the-art review with a focus on pulmonary involvement. Lung (2015)
  5. Gupta N,, Vassallo R, Wikenheiser-Brokamp KA,, McCormack FX. .Diffuse Cystic Lung Disease. Part I.Am J Respir Crit Care Med. 2015 Jun 15;191(12):1354-66