Experience of Hermansky–Pudlak syndrome diagnostics in case of X-ray pattern of common interstitial pneumonia


DOI: https://dx.doi.org/10.18565/therapy.2019.5.112-115

Kostina N.E., Malyavin A.G., Khvostikova A.E., Pustokhina O.E.

1) Voronezh Regional Clinical Hospital No. 1 2) A.I. Yevdokimov Moscow State University of medicine and dentistry of the Ministry of Healthcare of Russia
The article presents clinical observations of two patients admitted to a medical institution with a clinical picture of common interstitial pneumonia. A row of diagnostical studies has been monitored, a circle of clinical, physical and instrumental features has been identified, which had to be the basis for DNA diagnostics at the final stage. In that case DNA diagnostics made it possible timely identify in one of the patients Hermansky–Pudlak syndrome (HPS) – a rare autosomal recessive disease.
Keywords: Hermansky–Pudlak syndrome, interstitial pneumonia
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About the Autors

Natalia E. Kostina, PhD, doctor of the highest qualification category, head of Pulmonary Department of Voronezh Regional Clinical Hospital No. 1. Chief visiting pulmonologist of Healthcare Department of Voronezh Oblast. Address: 394024, Voronezh, 151 Moskovsky Prospect. Tel.: +7 (473) 257-97-40.
Andrey G. Malyavin, MD, professor of the Department of phthisiology and pulmonology of A.I. Yevdokimov Moscow State University of medicine and dentistry of the Ministry of Healthcare of Russia. Address: 127473, Moscow, 20/1 Delegatskaya Str. Tel.: +7 (916) 547-83-73. E-mail: maliavin@mail.ru
Alina E. Khvostikova, doctor of Pulmonary Department of Voronezh Regional Clinical Hospital No. 1. Address: 394024, Voronezh, 151 Moskovsky Prospect. Tel.: +7 (473) 257-97-40.
Olga E. Pustokhina, therapist of Voronezh Regional Clinical Hospital No. 1. Address: 394024, Voronezh, 151 Moskovsky Prospect. Tel.: +7 (473) 257-97-40.

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