Logo American Journal of Case Reports

Call: 1.631.629.4328
Mon-Fri 10 am - 2 pm EST

Contact Us

Logo American Journal of Case Reports Logo American Journal of Case Reports Logo American Journal of Case Reports

28 July 2019 : Case report  Saudi Arabia

Pulmonary Hypertension and Polycythemia Secondary to Pulmonary Alveolar Microlithiasis Treated with Sequential Bilateral Lung Transplant: A Case Study and Literature Review

Challenging differential diagnosis, Rare disease, Educational Purpose (only if useful for a systematic review or synthesis)

Naif M. Alrossais1ABCDEFG, Abdullah M. Alshammari12BCDEFG, Abdullah M. Alrayes1BCDE, Najwa Mohammad1CDEF, Mohamed J.H. Al-Amoodi3DEF, Ashwaq M. Almutairi4DEF, Abdulsalam O. Alsuhaymi5DEF, Daeya A. Alhadid1BDEF, Fatima A. Alhammad1DEF, Nida H. Ibnouf1DEF, Mohammed H. Ahmed26ABC, Waleed Saleh2ABC, Abdulhadi A. AlAmodi1ABCDEFG*

DOI: 10.12659/AJCR.911045

Am J Case Rep 2019; 20:1114-1119

Abstract

BACKGROUND: Pulmonary alveolar microlithiasis is an autosomal recessive disease in which a mutation in the SLC34A2 gene that codes for a sodium phosphate type IIb transporter protein (expressed in human epithelial tissues and functions in the clearance of phosphate ions) leads to the formation of extensive pulmonary intra-alveolar microliths. The subsequent characteristic clinical features of dyspnea and hypoxia are a manifestation of these microliths. There have been fewer than 1000 cases of pulmonary alveolar microlithiasis reported worldwide, and there have been 19 reported lung-transplanted patients.

CASE REPORT: A 49-year-old Saudi male patient presented with longstanding history of easy fatigability and tiredness on exertion since he was 16 years old. Throughout his follow-up in different hospitals (1986–1989), tuberculosis and pulmonary fibrosis were suspected. The patient was lost to follow-up between 1989 and 2001. In 2002, he presented to the emergency room with coughing, shortness of breath on exertion, abdominal swelling, and pedal edema. An investigation with chest x-rays, CT scan, electrocardiogram, and an echocardiogram was conducted. After referral to a tertiary care center, the patient was diagnosed with pulmonary alveolar microlithiasis. He subsequently developed pulmonary hypertension and polycythemia and therefore received a bilateral lung transplant in 2016. Following the lung transplant, he developed a mild reperfusion injury and tonic-clonic seizures, requiring ICU admission. After a successful extubatation with stable vitals and good recovery, he was discharged home in stable condition with planned follow-up.

CONCLUSIONS: We report a case of pulmonary alveolar microlithiasis successfully treated with a bilateral lung transplant. Although pulmonary alveolar microlithiasis is a rare entity, healthcare providers should consider it in the differential diagnoses of parenchymal lung diseases and differentiate it from tuberculosis and pulmonary fibrosis.

Keywords: Hypertension, Pulmonary, Lung Transplantation, Polycythemia, Pulmonary Alveoli, Calcinosis, Genetic Diseases, Inborn, Lung Diseases, Tomography, X-Ray Computed

Add Comment 0 Comments

In Press

Case report  Japan

A Rare Case of Ileocecal Lymph Node Recurrence After Surgery in Siewert’s Classification Type I Esophagogas...

Am J Case Rep In Press; DOI: 10.12659/AJCR.943080  

0:00

Case report  China (mainland)

Destructive Cryptococcal Osteomyelitis Mimicking Tuberculous Spondylitis

Am J Case Rep In Press; DOI: 10.12659/AJCR.944291  

0:00

Case report  USA

Severe Fatal ARDS Due to Untreated Human Granulocytic Anaplasmosis in a 67-Year-Old Man: A Case Report

Am J Case Rep In Press; DOI: 10.12659/AJCR.943966  

Case report  China (mainland)

Optic Neuritis Leading to Vision Loss: A Case of MOG-Associated Disease with Successful Immunotherapy

Am J Case Rep In Press; DOI: 10.12659/AJCR.943112  

Most Viewed Current Articles

07 Mar 2024 : Case report  USA 39,268

Neurocysticercosis Presenting as Migraine in the United States

DOI :10.12659/AJCR.943133

Am J Case Rep 2024; 25:e943133

0:00

10 Jan 2022 : Case report  Germany 31,274

A Report on the First 7 Sequential Patients Treated Within the C-Reactive Protein Apheresis in COVID (CACOV...

DOI :10.12659/AJCR.935263

Am J Case Rep 2022; 23:e935263

23 Feb 2022 : Case report  USA 18,158

Penile Necrosis Associated with Local Intravenous Injection of Cocaine

DOI :10.12659/AJCR.935250

Am J Case Rep 2022; 23:e935250

19 Jul 2022 : Case report  Saudi Arabia 17,956

Atlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19

DOI :10.12659/AJCR.936128

Am J Case Rep 2022; 23:e936128

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923