Literature DB >> 24179932

Case Report : Hermansky Pudlak Syndrome (Presenting as late onset heavy Menstrual Bleeding).

Amita Ray1, Sujoy Ray, Jose John Matthew.   

Abstract

Inherited bleeding disorders contribute significantly to the incidence and prevalence of Heavy Menstrual Bleeding (HMB), and contrary to popular belief can present any time during the reproductive years of a woman's life. The following case exemplifies this and is being presented as part of a rare syndrome. The incidence of this syndrome in the general population ranges from 1:500,000 to 1:1000, 000. Besides being rare the presentation was quite uncommon as majority of these cases present with pulmonary fibrosis.

Entities:  

Keywords:  Heavy menstrual bleeding; Hermansky–Pudlak syndrome (HPS)

Year:  2013        PMID: 24179932      PMCID: PMC3809671          DOI: 10.7860/JCDR/2013/5738.3394

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  11 in total

1.  Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies.

Authors:  F HERMANSKY; P PUDLAK
Journal:  Blood       Date:  1959-02       Impact factor: 22.113

2.  The use of levonorgestrel-releasing intrauterine system for treatment of menorrhagia in women with inherited bleeding disorders.

Authors:  C E C Kingman; R A Kadir; C A Lee; D L Economides
Journal:  BJOG       Date:  2004-12       Impact factor: 6.531

3.  Albinism and Hermansky-Pudlak syndrome in Puerto Rico.

Authors:  C J Witkop; M Nuñez Babcock; G H Rao; F Gaudier; C G Summers; F Shanahan; K R Harmon; D Townsend; H O Sedano; R A King
Journal:  Bol Asoc Med P R       Date:  1990-08

4.  Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome).

Authors:  W A Gahl; M Brantly; M I Kaiser-Kupfer; F Iwata; S Hazelwood; V Shotelersuk; L F Duffy; E M Kuehl; J Troendle; I Bernardini
Journal:  N Engl J Med       Date:  1998-04-30       Impact factor: 91.245

5.  Frequency of inherited bleeding disorders in women with menorrhagia.

Authors:  R A Kadir; D L Economides; C A Sabin; D Owens; C A Lee
Journal:  Lancet       Date:  1998-02-14       Impact factor: 79.321

6.  Hermansky-Pudlak syndrome: infrequent bleeding and first report of Turkish and Pakistani kindreds.

Authors:  C Harrison; K Khair; B Baxter; I Russell-Eggitt; I Hann; R Liesner
Journal:  Arch Dis Child       Date:  2002-04       Impact factor: 3.791

7.  Therapy refractory menorrhagia as first manifestation of Hermansky-Pudlak syndrome.

Authors:  J Lohse; S Gehrisch; J T Tauer; R Knöfler
Journal:  Hamostaseologie       Date:  2011-11       Impact factor: 1.778

8.  Successful bilateral lung transplantation for pulmonary fibrosis associated with the Hermansky-Pudlak syndrome.

Authors:  David J Lederer; Steven M Kawut; Joshua R Sonett; Efsevia Vakiani; Samuel L Seward; James G White; Jessie S Wilt; Charles C Marboe; William A Gahl; Selim M Arcasoy
Journal:  J Heart Lung Transplant       Date:  2005-10       Impact factor: 10.247

Review 9.  Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.

Authors:  Maria L Wei
Journal:  Pigment Cell Res       Date:  2006-02

10.  Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome.

Authors:  William A Gahl; Mark Brantly; James Troendle; Nilo A Avila; Antonio Padua; Carlos Montalvo; Hilda Cardona; Karim Anton Calis; Bernadette Gochuico
Journal:  Mol Genet Metab       Date:  2002-07       Impact factor: 4.797

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.