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Hermansky-Pudlak syndrome with pulmonary fibrosis

MedGen UID:
1843223
•Concept ID:
C5679834
•
Disease or Syndrome
Synonyms: Hermansky-Pudlak syndrome due to BLOC-3 deficiency; HPS with pulmonary fibrosis
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016501
Orphanet: ORPHA231500

Definition

Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Hermansky-Pudlak syndrome with pulmonary fibrosis

Professional guidelines

PubMed

The efficacy and safety of pirfenidone in the treatment of HPS-related pulmonary fibrosis and Idiopathic pulmonary fibrosis: a systematic review and meta-analysis.
Ma YJ, Zhang Q, Wang CX, Wu W
Eur Rev Med Pharmacol Sci 2022 Nov;26(22):8411-8424. doi: 10.26355/eurrev_202211_30377. PMID: 36459024
Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis.
O'Brien KJ, Introne WJ, Akal O, Akal T, Barbu A, McGowan MP, Merideth MA, Seward SL Jr, Gahl WA, Gochuico BR
Mol Genet Metab 2018 Sep;125(1-2):168-173. Epub 2018 Jul 23 doi: 10.1016/j.ymgme.2018.07.012. PMID: 30055995
Pirfenidone for the treatment of idiopathic pulmonary fibrosis.
Antoniu SA
Expert Opin Investig Drugs 2006 Jul;15(7):823-8. doi: 10.1517/13543784.15.7.823. PMID: 16787145

Recent clinical studies

Therapy

Genetic variants associated with Hermansky-Pudlak syndrome.
Merideth MA, Introne WJ, Wang JA, O'Brien KJ, Huizing M, Gochuico BR
Platelets 2020 May 18;31(4):544-547. Epub 2019 Sep 5 doi: 10.1080/09537104.2019.1663810. PMID: 32436471Free PMC Article
Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis.
O'Brien KJ, Introne WJ, Akal O, Akal T, Barbu A, McGowan MP, Merideth MA, Seward SL Jr, Gahl WA, Gochuico BR
Mol Genet Metab 2018 Sep;125(1-2):168-173. Epub 2018 Jul 23 doi: 10.1016/j.ymgme.2018.07.012. PMID: 30055995
Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation.
El-Chemaly S, O'Brien KJ, Nathan SD, Weinhouse GL, Goldberg HJ, Connors JM, Cui Y, Astor TL, Camp PC Jr, Rosas IO, Lemma M, Speransky V, Merideth MA, Gahl WA, Gochuico BR
PLoS One 2018;13(3):e0194193. Epub 2018 Mar 16 doi: 10.1371/journal.pone.0194193. PMID: 29547626Free PMC Article
Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.
Vicary GW, Vergne Y, Santiago-Cornier A, Young LR, Roman J
Ann Am Thorac Soc 2016 Oct;13(10):1839-1846. doi: 10.1513/AnnalsATS.201603-186FR. PMID: 27529121Free PMC Article
An autopsy case of Hermansky-Pudlak syndrome: a case report and review of the literature on treatment.
Harada T, Ishimatsu Y, Nakashima S, Miura S, Tomonaga M, Kakugawa T, Hara S, Sakamoto N, Yoshii C, Mukae H, Kawabata Y, Kohno S
Intern Med 2014;53(23):2705-9. Epub 2014 Dec 1 doi: 10.2169/internalmedicine.53.2239. PMID: 25447654

Prognosis

Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease.
Yokoyama T, Gochuico BR
Eur Respir Rev 2021 Mar 31;30(159) Epub 2021 Feb 2 doi: 10.1183/16000617.0193-2020. PMID: 33536261Free PMC Article
Hermansky-Pudlak syndrome: Mutation update.
Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR
Hum Mutat 2020 Mar;41(3):543-580. Epub 2020 Jan 23 doi: 10.1002/humu.23968. PMID: 31898847Free PMC Article
Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype.
Botero JP, Chen D, Majerus JA, Coon LM, He R, Warad DM, Pruthi RK, Nichols WL
Platelets 2018 Jan;29(1):91-94. Epub 2017 Nov 1 doi: 10.1080/09537104.2017.1361019. PMID: 29090612
Hermansky-Pudlak syndrome: high-resolution computed tomography findings and literature review.
Bin Saeedan M, Faheem Mohammed S, Mohammed TL
Curr Probl Diagn Radiol 2015 Jul-Aug;44(4):383-5. Epub 2015 Jan 30 doi: 10.1067/j.cpradiol.2015.01.003. PMID: 25728501
An autopsy case of Hermansky-Pudlak syndrome: a case report and review of the literature on treatment.
Harada T, Ishimatsu Y, Nakashima S, Miura S, Tomonaga M, Kakugawa T, Hara S, Sakamoto N, Yoshii C, Mukae H, Kawabata Y, Kohno S
Intern Med 2014;53(23):2705-9. Epub 2014 Dec 1 doi: 10.2169/internalmedicine.53.2239. PMID: 25447654

Clinical prediction guides

Thromboxane-Prostanoid Receptor Signaling Drives Persistent Fibroblast Activation in Pulmonary Fibrosis.
Suzuki T, Kropski JA, Chen J, Carrier EJ, Chen X, Sherrill TP, Winters NI, Camarata JE, Polosukhin VV, Han W, Rathinasabapathy A, Gutor S, Gulleman P, Sabusap C, Banovich NE, Tanjore H, Freeman ML, Tada Y, Young LR, Gokey JJ, Blackwell TS, West JD
Am J Respir Crit Care Med 2022 Sep 1;206(5):596-607. doi: 10.1164/rccm.202106-1503OC. PMID: 35728047Free PMC Article
Hermansky-Pudlak syndrome: Mutation update.
Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR
Hum Mutat 2020 Mar;41(3):543-580. Epub 2020 Jan 23 doi: 10.1002/humu.23968. PMID: 31898847Free PMC Article
Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis.
O'Brien KJ, Introne WJ, Akal O, Akal T, Barbu A, McGowan MP, Merideth MA, Seward SL Jr, Gahl WA, Gochuico BR
Mol Genet Metab 2018 Sep;125(1-2):168-173. Epub 2018 Jul 23 doi: 10.1016/j.ymgme.2018.07.012. PMID: 30055995
Mucocutaneous granulomatous disease in a patient with Hermansky-Pudlak syndrome.
Salvaggio HL, Graeber KE, Clarke LE, Schlosser BJ, Orlow SJ, Clarke JT
JAMA Dermatol 2014 Oct;150(10):1083-7. doi: 10.1001/jamadermatol.2014.147. PMID: 24989352
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.
Wei ML
Pigment Cell Res 2006 Feb;19(1):19-42. doi: 10.1111/j.1600-0749.2005.00289.x. PMID: 16420244

Recent systematic reviews

The efficacy and safety of pirfenidone in the treatment of HPS-related pulmonary fibrosis and Idiopathic pulmonary fibrosis: a systematic review and meta-analysis.
Ma YJ, Zhang Q, Wang CX, Wu W
Eur Rev Med Pharmacol Sci 2022 Nov;26(22):8411-8424. doi: 10.26355/eurrev_202211_30377. PMID: 36459024
Systematic review of drug effects in humans and models with surfactant-processing disease.
Klay D, Hoffman TW, Harmsze AM, Grutters JC, van Moorsel CHM
Eur Respir Rev 2018 Sep 30;27(149) Epub 2018 Jul 11 doi: 10.1183/16000617.0135-2017. PMID: 29997245Free PMC Article

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