Patient general condition:
Female, 42 years old, housewife
The main symptoms are appealing: cough for one year, sputum blood for half a month. Current Medical History:
1 year ago, the patient had cough, sputum whitening, no obvious fever and chills, chest tightness and shortness of breath after activity, obvious symptoms when the weather changed, the patient went to the local hospital for treatment, anti-infective sputum and other treatment, the patient felt that the symptoms did not improve significantly, and there was no obvious change in the re-examination of lung CT. The patient presented in January this year to consider "Interstitial lung disease?" ", the patient was given anti-fibrosis, asme cough and total re-inhalation therapy, and the patient still had cough symptoms. Half a month ago, the patient had symptoms of blood in sputum, every morning when the sputum blood 1 mouth, the patient for further treatment, to our hospital outpatient clinic, cefixime and erdostam treatment, the patient's cough has decreased, is now for further treatment, is intended to be "interstitial lung disease" admitted to the hospital.
Past and Personal History:
The patient complained of low vision in both eyes, yellow-white eyelashes and eyebrows, and light hair color from birth, which was not treated.
There is a history of postpartum haemorrhage.
Denial of alcohol and tobacco.
Outer courtyard examination:
Shanghai District Traditional Chinese Medicine Hospital 2021-12-18 Chest CT Report: Chronic interstitial lung disease in both lungs, fibrosis with thickening and adhesion of the pleura on both sides; small nodules of the two lungs (located in the upper right and lower left, the larger diameter is 5.5 mm, the boundary is clear); the density of soft tissue of the anterior upper mediastinum (about 17 * 9 mm).
Pulmonary function is shown: moderate decrease in ventilation function (limiting), moderate decrease in diffuse function.
Our hospital inspection report:
Blood gas analysis: partial pressure of oxygen 79.3 mmHg, oxygen saturation 95.9%, alveolar artery oxygen partial pressure difference of 26.6 mmHg
Blood routine: normal
Blood clotting: normal.
Myocardial quadruple: myoglobin 22.9 ng/ml
Biochemistry: glucose 3.7 mmol/L, lactate dehydrogenase 268 IU/L.
Blood lipids: total cholesterol (TCH) 5.63 mmol/L, low-density lipoprotein (LDL-C) 3.79 mmol/L, high-density lipoprotein (HDL-C) 0.91 mmol/L
Angiotensin-converting enzyme (SACE) 71IU/L
Erythrocyte sedimentation rate (ESR) 50 mm/h
Immunoglobulins: immunoglobulin G (IGG) 17.20 g/L, immunoglobulin A (IGA) 4.28 g/L
Nine-fold test: negative.
Hepatitis B surface antigen (HBSAG-C) > 165.00 ng/ml
T cell immune response (QFT) of Mycobacterium tuberculosis: negative
Tumor markers: CYFRA21-1 (CA211) 3.59 ng/ml, ferritin (SF) 148.75 ng/ml
Sputum tuberculosis, bacterial, fungal smears and cultures: negative.
GM test, G test, Cryptococcal antigen: negative.
Inspection Report:
2022-03-01 Venous hypersupulation of the lower extremities: No significant thrombosis was seen in the deep veins of the bilateral lower extremities
2022-03-02 Cardiac ultrasound: the size of each atrioventricular cavity is normal, and the left ventricular systolic and diastolic function is normal
2022-03-02 Thyroid color ultrasound: Cystic nodules of the right lobe of the thyroid gland (larger than 1.8×1.0 mm) quasi-TI-RADS class 1
2022-03-01 Abdominal ultrasound: normal
2022-02-28 ECG report examination report: 1, sinus rhythm 2, limb lead low voltage 3, left axis bias
tracheoscopy:
Pathological examination results:
Pathological diagnosis results:
(Lower right basal cryopulmonary biopsy) alveolar septal widening fibrosis, foci of follicular fibrosis in some areas, alveolar epithelial cell hyperplasia, foamy translucency of cytoplasm, combined with the patient's eye and hair albinism, considered as Hermansky-Pudlak syndrome caused by interstitial pneumonia, further combination of clinical and related genetic testing is recommended. Immunohistochemical results: TTF-1 (SPT24) (+), CD68 (histiocytes +), CK (+).
HPS is a type of albinism syndrome that is autosomal recessive and has significant genetic heterogeneity. First reported by Hermanky and Pudlak in 1959. Clinically, it is characterized by eye-skin albino-like symptoms, bleeding tendencies, and intra-tissue waxy lipid accumulation triad, which can be accompanied by fatal complications such as pulmonary fibrosis, granulomatous colitis, kidney failure, and cardiomyopathy.
The prevalence of HPS is estimated at 1-9 per 1 million.
In humans, 8 genotypes of HPS have been identified, caused by 8 different gene mutations, namely HPS1, ADTB3A, HPS3, HPS4, HPS5, HPS6, DTNBP1 and BLOC1S3, of which HPS1 is the most common, accounting for about half of all cases.
Organelles encoding lysosomal or lysosomal-related organelles (including melanocytes, dense platelet particles, platelet bodies)
The most prominent clinical manifestations of HPS are bleeding tendencies due to albinism and platelet dysfunction due to skin and iris pigment deficiency.
HPS pulmonary fibrosis (HPS-PF) occurs in patients with HPS-1, HPS-2, and HPS-4 subtypes. Onset usually occurs at the age of 30-40 or 50-60 years, depending on the individual's genetic makeup and response to inflammation. Much like IPF, HPS-PF causes progressive and irreversible scarring of lung tissue, eventually leading to respiratory failure and death about 10 years after the onset of HPS-PF.
HPS1, which tends to die from fatal pulmonary fibrosis, is one of the most ill subtypes of HPS.
HPS-PF has a similar histological pattern to idiopathic pulmonary fibrosis (IPF) and is characterized by dyspnea and progressive hypoxemia.
treat
Pirfenidone: a preliminary trial investigated the efficacy of the drug in patients with mild to moderate HPS-PF. However, the study was terminated due to invalidity. （Gahlet al., 2002）
Nidanib
Gene therapy and gene editing are potential treatments for HPS. A preclinical principled validation study showed that HPS1 deficiencies in cutaneous melanocytes in HPS-1 patients could be corrected by transducing cells with lentiviral vectors containing HPS1 structures.
Lung transplantation remains the only treatment available for HPS-PF patients. Patients with HPS-PF should be evaluated for lung transplantation early in the course of the disease. HPS-associated bleeding diathesis is not a major obstacle to surgery in hps patients, although it may be a potential contraindication because a lack of platelet compact bodies can lead to bleeding. Despite the risk of bleeding, PATIENTS-1 has successfully undergone lung transplantation (El Chemaly and Young, 2016).
Patients with HPS with pulmonary fibrosis— that is, HPS-1, -4, and HPS-2 — should be evaluated for lung transplantation early in the course of the disease.
The disease is still an extremely rare disease, with a total of 14 cases reported worldwide, of which 13 are from abroad and one from the mainland, and the one we diagnosed is the latest to be discovered.