Hermansky-Pudlak syndrome

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 29161
ICD10 = ICD10|E|70|3|e|70
(ILDS E70.360)
ICD9 =
ICDO =
OMIM = 203300
MedlinePlus =
eMedicineSubj = oph
eMedicineTopic = 713
eMedicine_mult = eMedicine2|derm|925 | MeshID = D022861

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive [cite journal |pmid=9497254 |year=1998 |month=Mar |author=Oh, J; Ho, L; Ala-Mello, S; Amato, D; Armstrong, L; Bellucci, S; Carakushansky, G; Ellis, Jp; Fong, Ct; Green, Js; Heon, E; Legius, E; Levin, Av; Nieuwenhuis, Hk; Pinckers, A; Tamura, N; Whiteford, Ml; Yamasaki, H; Spritz, Ra |title=Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity |volume=62 |issue=3 |pages=593–8 |pmc=1376951 |doi=10.1086/301757 |journal=American journal of human genetics] disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).

There are eight classic forms of the disorder, based on the genetic mutation from which the disorder stems. [OMIM|203300]

Prognosis

The course of HPS has been mild in rare instances of the disorder, [cite journal |pmid=8274781 |year=1993 |month= |author=Schallreuter, Ku; Frenk, E; Wolfe, Ls; Witkop, Cj; Wood, Jm |title=Hermansky-Pudlak syndrome in a Swiss population |volume=187 |issue=4 |pages=248–56 |issn=1018-8665 |journal=Dermatology (Basel, Switzerland) |url=http://www.geneticalliance.org/ws_display.asp?filter=infosearch_results&info_keyword=Vitiligo |format=Free full text] however, the general prognosis is still considered to be poor.

The disease can cause dysfunctions of the lungs, intestine, kidneys or heart. The major complication of most forms of the disorder is pulmonary fibrosis, which typically exhibits in patients ages 40 - 50 years old. [cite journal |pmid=3921802 |year=1985 |month=May |author=Depinho, Ra; Kaplan, Kl |title=The Hermansky-Pudlak syndrome. Report of three cases and review of pathophysiology and management considerations |volume=64 |issue=3 |pages=192–202 |issn=0025-7974 |journal=Medicine] This is a fatal complication seen in many forms of HPS, and is the usual cause of death from the disorder. [cite journal |pmid=940919 |year=1976 |month=Apr |author=Davies, Bh; Tuddenham, Eg |title=Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect. A new syndrome |volume=45 |issue=178 |pages=219–32 |issn=0033-5622 |journal=The Quarterly journal of medicine]

The disorder is more common in Puerto Rico,cite journal |author=Santiago Borrero PJ, Rodríguez-Pérez Y, Renta JY, "et al" |title=Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico |journal=J. Invest. Dermatol. |volume=126 |issue=1 |pages=85–90 |year=2006 |month=January |pmid=16417222 |doi=10.1038/sj.jid.5700034] where many of the clinical research studies on the disease have been conducted.

Causes

HPS can be caused by mutations in several genes: HPS1, HPS3, HPS4, HPS5, HPS6 and HPS7.

HPS type 2, which includes immunodeficiency in its phenotype, is caused by mutation in the AP3B1 gene.

HPS type 7 may result from a mutation in the gene coding for dysbindin protein.cite journal |author=Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra V, Kingsmore SF, Paylor RE, Swank RT |title=Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) |journal=Nat. Genet. |volume=35 |issue=1 |pages=84–9 |year=2003 |pmid=12923531 |doi=10.1038/ng1229]

Treatment

While there is no cure for HPS, treatment for chronic hemorrhages associated with the disorder includes therapy with vitamin E and the antidiuretic dDAVP. [cite journal |pmid=2916560 |year=1989 |month=Mar |author=Wijermans, Pw; Van, Dorp, Db |title=Hermansky-Pudlak syndrome: correction of bleeding time by 1-desamino-8D-arginine vasopressin |volume=30 |issue=3 |pages=154–7 |issn=0361-8609 |journal=American journal of hematology]

Eponym

It is named for Frantisek Hermansky and P. Pudlak. [WhoNamedIt|synd|2220] [cite journal | author=Hermansky F, Pudlak P | title=Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies | journal=Blood | year=1959 | pages=162�"9 | volume=14 | issue=2 | pmid=13618373]

References

ee also

* Biogenesis of lysosome-related organelles complex 1

External links

* [http://www.hpsnetwork.org Hermansky-Pudlak Syndrome Network]