Poor response to desmopressin acetate (DDAVP) in children with Hermansky-Pudlak syndrome

Cordova, Ana; Barrios, Nilka J.; Ortíz, Idith; Rivera, Enid; Cadilla, Carmen L.; Santiago-Borrero, Pedro J.

doi:10.1002/pbc.20210

Cited by 24 publications

(17 citation statements)

References 18 publications

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“…Desmopressin, a synthetic vasopressin, has been used with variable success for prophylaxis of minor bleeding in patients with HPS. [23][24][25] If major bleeding is anticipated, a platelet transfusion should be considered. In any event, it is reasonable to have platelets available in case excessive bleeding occurs during or after surgery.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Eye Movement Abnormalities in Hermansky-Pudlak Syndrome

Gradstein

FitzGibbon

Tsilou

et al. 2005

Journal of American Association for Pediatric Ophthalmology and

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Section: Clinical Manifestationsmentioning

confidence: 99%

Eye Movement Abnormalities in Hermansky-Pudlak Syndrome

Gradstein

FitzGibbon

Tsilou

et al. 2005

Journal of American Association for Pediatric Ophthalmology and

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“…Some degree of mucocutaneous hemorrhage has been reported in practically all HPS patients [54]. Notably, an estimated 40% of HPS patients are vulnerable to life-threatening hemorrhage with an approximate 10% supposedly succumbing to bleeding complications [55,56,57].…”

Section: Elements Of Hpsmentioning

confidence: 99%

“…Another study, employing molecular characterization, showed that 15 of 19 Puerto Rican children with HPS1 gene mutation (present in >50% of Puerto Ricans with HPS) and 2 of 4 without HPS1 gene mutation failed to improve their bleeding times after test doses of DDAVP. Previous bleeding studies in Dutch and Belgian patients have been criticized for failing to identify mutation types, highlighting the complexity of determining effectual treatment [54, 73]. …”

Section: Treatmentmentioning

confidence: 99%

Pulmonary Fibrosis in Hermansky-Pudlak Syndrome

et al. 2006

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Hermansky-Pudlak syndrome (HPS) is a rare heterogeneously inherited autosomal recessive group of disorders presenting with oculocutaneous albinism, bleeding diathesis and pulmonary disease. HPS is thought to occur as a consequence of disturbed formation or trafficking of intracellular vesicles, most importantly, melanosomes, platelet dense granules and lysosomes. The latter finding, in particular, contributes much to the morbidity associated with the disease, as ceroid lipofuscin deposits in lysosomes affect many organ systems. This is especially problematic in the lungs where it is often associated with pulmonary fibrosis and premature death. Currently, there are 7 known HPS genes in humans. In the mouse, at least 16 known HPS genes produce HPS-mutant phenotypes. The HPS gene mutation is considered to be one of the most prevalent single-gene disorders in northwest Puerto Rico, home to the largest cohort of known patients. In HPS, interventions addressing the bleeding diathesis and pulmonary fibrosis are often disappointingly ineffectual. Pirfenidone, a novel compound with documented anti-inflammatory, antioxidant and antifibrotic effects, appears to hold promise in delaying or preventing fibrosis. To date, there has been one successful lung transplant performed on a patient with HPS. We present a patient with HPS and review the current literature on our understanding of this rare disorder.

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“…PCFT-SLC46A1, OCA1, HPS , and HIV serotypes), and that also included healthy subjects, have been conducted in Puerto Ricans within the island [49–52]. Reports of the frequencies of genetic biomarkers and phenotyping of drug metabolism or valid biomarkers in the Puerto Rican population are necessary to support efforts towards the adoption of a personalized medicine paradigm in the island.…”

Section: Discussionmentioning

confidence: 99%

Pharmacogenetics of healthy volunteers in Puerto Rico

Claudio‐Campos

Orengo-Mercado

Renta

et al. 2015

Drug Metabolism and Personalized Therapy

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Puerto Ricans are a unique Hispanic population with European, Native American (Taino), and higher West African ancestral contributions than other non-Caribbean Hispanics. In admixed populations, such as Puerto Ricans, genetic variants can be found at different frequencies when compared to parental populations and uniquely combined and distributed. Therefore, in this review, we aimed to collect data from studies conducted in healthy Puerto Ricans and to report the frequencies of genetic polymorphisms with major relevance in drug response. Filtering for healthy volunteers or individuals, we performed a search of pharmacogenetic studies in academic literature databases without limiting the period of the results. The search was limited to Puerto Ricans living in the island, excluding those studies performed in mainland (United States). We found that the genetic markers impacting pharmacological therapy in the areas of cardiovascular, oncology, and neurology are the most frequently investigated. Coincidently, the top causes of mortality in the island are cardiovascular diseases, cancer, diabetes, Alzheimer’s disease, and stroke. In addition, polymorphisms in genes that encode for members of the CYP450 family (CYP2C9, CYP2C19, and CYP2D6) are also available due to their relevance in the metabolism of drugs. The complex genetic background of Puerto Ricans is responsible for the divergence in the reported allele frequencies when compared to parental populations (Africans, East Asians, and Europeans). The importance of reporting the findings of pharmacogenetic studies conducted in Puerto Ricans is to identify genetic variants with potential utility among this genetically complex population and eventually move forward the adoption of personalized medicine in the island.

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Poor response to desmopressin acetate (DDAVP) in children with Hermansky-Pudlak syndrome

Abstract: DDAVP seldom improves the BT of Puerto Rican children with HPS. Response to DDAVP should be determined individually and platelet transfusion should remain the treatment of choice for a major bleeding episode or surgical procedure.

Cited by 24 publications

References 18 publications

Eye Movement Abnormalities in Hermansky-Pudlak Syndrome

Eye Movement Abnormalities in Hermansky-Pudlak Syndrome

Pulmonary Fibrosis in Hermansky-Pudlak Syndrome

Pharmacogenetics of healthy volunteers in Puerto Rico

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