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Pulmonary diseases in pregnancy
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Leah Lande, Abraham Sanders, Dana Zappetti
Lymphangioleiomyomatosis (LAM) is a rare lung disease more common in women. It can occur sporadically or can be associated with tuberous sclerosis. Pathologically, cysts and a multifocal nodular proliferation of immature smooth and perivascular epithelioid cells are found. Women may complain of shortness of breath, cough, or hemoptysis and can be found to have a pneumothorax or a chylous effusion in the chest or abdomen. The condition is associated with angiomyolipomas of the kidneys and meningiomas.
Paper 2
Published in Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw, The Final FRCR, 2020
Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw
The imaging features are that of lymphangioleiomyomatosis (LAM), which is a rare interstitial lung disease, more common in women of childbearing age. It manifests as thin-walled cysts of uniform size with normal intervening lung parenchyma. Patients with the condition can present with a pneumothorax and sometimes they develop chylous pleural effusion. It is associated with tuberous sclerosis (approximately 40% of patients with tuberous sclerosis have LAM).
Lung transplantation for ILD
Published in Muhunthan Thillai, David R Moller, Keith C Meyer, Clinical Handbook of Interstitial Lung Disease, 2017
Lymphangioleiomyomatosis (LAM) is a rare form of ILD affecting women of reproductive age, and it is linked to the tuberous sclerosis gene complex. Disease progression is variable and may respond to sirolimus therapy, while others may progress to respiratory failure. Important extrapulmonary manifestations include chyloperitoneum, renal angiomyolipomas and meningiomas.
Prospective nanoparticle treatments for lymphangioleiomyomatosis
Published in Expert Opinion on Drug Delivery, 2022
Emelie Landh, Roger Wang, Lyn M. Moir, Daniela Traini, Paul M. Young, Hui Xin Ong
Lymphangioleiomyomatosis (LAM) is a rare neoplastic lung disease that mainly manifests in women during their reproductive years, affecting 1 in 200,000 women [1]. The origin of LAM remains unknown, but in 1993, the gene that causes tuberous sclerosis was identified and located on chromosome 16 [2]. Later, evidence showed that mutations in the tuberous sclerosis complex 2 (TSC2) gene located on chromosome 16 was associated with LAM [3]. There are two types of LAM, S-LAM that occurs sporadically and TS-LAM that occurs in association with the disease tuberous sclerosis [3,4]. TS-LAM is caused by mutational inactivation of the tumor suppressor genes, TSC1 and 2, while S-LAM is caused by inactivation of TSC2 with both resulting in the constitutive activation of the mTOR pathway [3]. The activation of this pathway causes increased cell proliferation, migration, and autophagy (Figure 1) [4,5]. There is currently no cure for LAM, and the primary causes of mortality and morbidity are airway obstruction, decreased lung function, and collapsed lungs. While the disease course tends to vary greatly between individuals, it is estimated that mortality at 10 years is approximately 30% from the time that a lung biopsy is performed [6] and 10–20% from the onset of symptoms [6–8].
Exome sequencing of Saudi Arabian patients with ADPKD
Published in Renal Failure, 2019
Fahad A. Al-Muhanna, Abdullah M. Al-Rubaish, Chittibabu Vatte, Shamim Shaikh Mohiuddin, Cyril Cyrus, Arafat Ahmad, Mohammed Shakil Akhtar, Mohammad Ahmad Albezra, Rudaynah A. Alali, Afnan F. Almuhanna, Kai Huang, Lusheng Wang, Feras Al-Kuwaiti, Tamer S. Ahmed Elsalamouni, Abdullah Al Hwiesh, Xiaoyan Huang, Brendan Keating, Jiankang Li, Matthew B. Lanktree, Amein K. Al-Ali
Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by facial angiofibromas, benign brain tumors, seizures, developmental delay, cardiac rhabdomyomas, pulmonary lymphangioleiomyomatosis, and renal angiomyolipomas [48]. TSC is caused by a pathogenic variant in either TSC1 or TSC2. The TSC2 gene is located adjacent to PKD1 on chromosome 16p13.3. A contiguous deletion syndrome, where both TSC2 and PKD1 genes are deleted, has been reported to lead to a severe phenotype including signs and symptoms of TSC and PKD [49–51]. One patient in the present cohort was found to have a likely pathogenic variant in the TSC2 gene, but no classical ADPKD mutation. This patient did not show any signs or symptoms of TSC in the brain, heart, lung, eye, or kidney.
Pulmonary lymphangioleiomyomatosis associated with aggressive renal angiomyolipoma
Published in Baylor University Medical Center Proceedings, 2018
Allison Cooper, Laura Baugh, Shannon Kelley, Howard Huang, Joseph Guileyardo
Lymphangioleiomyomatosis (LAM) is a rare pulmonary disease that has been found to primarily affect women of childbearing age.1 The disease is frequently associated with mutations in the tuberous sclerosis (TSC) genes TSC1 and TSC2, but other sporadic instances of LAM also occur in the absence of these mutations.2 Characteristic microscopic findings include cystic degeneration of the lung parenchyma associated with groups of smooth muscle-like spindle and epithelioid cells (or “LAM” cells); clinical findings (dyspnea, recurrent pneumothorax, and chylothorax) are sequelae of lymphovascular and airway obstruction by LAM cells.1,3 Renal angiomyolipomas are estimated to occur in 40% of women with the sporadic form of the disease, and emerging theories suggest that LAM cells may actually arise from these angiomyolipomas.2 Here, we present a woman with pulmonary LAM and infiltration of the right kidney and adrenal gland by an aggressive angiomyolipoma, which is the most likely source for the pulmonary LAM cells in this patient.