ADPKD summary

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    ADPKD:Autosomal Dominant Polycystic Kidney

    DiseaseBy Robert S. Gillespie, M.D., M.P.H.

    What is ADPKD?

    ADPKD is a kidney disease in which the kidneys have cysts. Cysts are collections of

    fluid. The cysts start out very small. But they can grow over time. Do not confuse

    ADPKD with autosomal recessive polycystic kidney disease (AR PKD! a completely

    different disease.

    What causes ADPKD?

    "enes cause ADPKD. "enes are the #instructions$ on how to %uild your %ody. "enes

    control many things! such as the color of your hair or eyes. Children get genes from %oth

    of their parents. "enes also control some kidney diseases. &hen a child has ADPKD! it

    usually means that one parent has ADPKD too. The parent may not know that he or she

    has ADPKD. A small num%er of patients have a #spontaneous$ form of ADPKD. This

    form does not come from the parents.

    ADPKD is not contagious. 'ou cant #catch$ it from someone else. ADPKD is not a

    form of cancer.

    What are the symptoms of ADPKD?

    )ost children with ADPKD feel fine. They have no symptoms at all. )any adults with

    ADPKD also do not have any symptoms. &hen people have pro%lems from ADPKD! they

    may have*

    +igh %lood pressure

    Blood in the urine

    Back or stomach pain

    Kidney stones

    ,rinary infection

    )any other diseases can also cause these symptoms. 'our doctor can help you find out if

    the symptoms are from ADPKD.

    Does ADPKD aect other parts of the body?

    People with ADPKD often develop cysts in the liver. These cysts usually dont cause

     pro%lems. -ome people with ADPKD have aneurysms (#anyurisms$ in the %rain. An

    aneurysm is a weak spot in a %lood vessel. Aneurysms can leak or %urst! causing %rain

    damage or even death. The risk is higher if someone in your family has had an aneurysm.

    Compliments of your Physician

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    /f someone in your family had an aneurysm! you should have a test for one. Ask your

    doctor for more information.

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    How is ADPKD treated?

     0o treatment makes the cysts go away. Doctors only treat pro%lems related to the cysts.

    People with ADPKD who dont have any pro%lems dont need any treatment. -ome of the

     pro%lems and treatments are*

    Problem Treatment options+igh %lood pressure Diet! e1ercise! medicine

    Blood in the urine 0o treatment

    Back or stomach pain )edicine! surgery to drain large cysts

    Kidney stones )edicines! surgery! lithotripsy (%reaking stones with sound waves

    ,rinary infection )edicine (anti%iotics

    A little more than half of people with ADPKD develop kidney failure. This almost never

    happens during childhood. /t usually happens around age 23 to 43. People with kidney

    failure must have dialysis or a kidney transplant. People with ADPKD should see a

    doctor regularly for checkups. These checkups can help prevent pro%lems! or treat them

     %efore they get worse.

    Should other family members get tested for ADPKD?

    /f you have ADPKD! its possi%le that your parent! %rothers or sisters also have the disease.

    They may not have any symptoms. )any people have ADPKD and dont know it. 'our

    doctor will pro%a%ly suggest that these relatives get ultrasounds of their kidneys. There is

    also a %lood test for ADPKD! %ut it is much more e1pensive.

    'ou can give your relatives an information sheet called #&hen a relative has ADPKD.$Ask your doctor for a copy! or download it at*

    http://kidneyweb.net/handouts/ADPKD-Relatives.doc

    Where can get more information?

    'our kidney doctor is your first source for information. Be sure to ask any 5uestions you

    have. 'ou may want to write down 5uestions so you can ask them at the ne1t visit. The

    PKD 6oundation provides information and support for people with ADPKD.

     

    PKD 6oundation Phone* 7833PKDC,9:;>=@ :mail* pkdcurepkdcure.org

    &e%* www.pkdcure.org

    The 0ational i%rary of )edicine has additional information online at*

    http://www.nlm.nih.gov/medlineplus/ency/article/0000!.htm

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    © 2! by Robert S. Gillespie. Re"ise# 2$!.  %his &or' is license# un#er the Creati"e Commons(ttribution)*oncommercial 2.+ icense. %o "ie& a copy of this license, "isit-i#neyeb.net$license.htm.

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    !nfermedad "enal Poli#u$sticaAutos%mica Dominante &!"PAD' 

    /(utosomal Dominant Polycystic -i#ney Disease0

    Escrito por Robert S. Gillespie, M.D., M.P.H.Nefrólogo Pediátrico (Especialista de Riñones de Niños

    ()u*l es !"PAD?

    :9PAD es una enfermedad del rin en 5ue los riones tienen quistes. os 5uistes son

    colecciones de lE5uido. /nicialmente! los 5uistes son muy pe5ueos. Pero pueden crecer

    con tiempo. 0o confunda :9PAD con la enfermedad renal poli5uEstica autosmica

    recesiva (:9PAR ! una enfermedad completamente distinta.

    (+u, causa !"PAD?

    os genes causan :9PAD. os genes son las FinstruccionesF cmo construir el cuerpo.os genes controlan muchas cosas! como el color del pelo o los oGos. os nios reci%en

    genes de los dos padres. os genes tam%iHn controlan algunas enfermedades del rin.

    Cuando un nio tiene :9PAD! generalmente significa 5ue un padre tiene :9PAD tam%iHn.

    :s posi%le 5ue este padre no sepa 5ue Hl o ella tiene :9PAD. ,n nImero pe5ueo de

     pacientes tiene una forma FespontJneaF de :9PAD. :sta forma no viene de los padres.

    :9PAD no es contagioso. ,sted no puede FcogerloF algIn otro. :9PAD no es ninguna

    forma de cJncer.

    ()u*les son los s$ntomas de !"PAD?

    a mayorEa de los nios con :9PAD se sienten muy %ien! y no tienen ningIn sEntoma.

    )uchos adultos con :9PAD tam%iHn no tienen ningIn sEntoma. Cuando una persona tiene

     pro%lemas de :9PAD! puede tener*

    Presin arterial alta

    -angre en la orina

    Dolor de la espaldo o del estmago

    Piedras del rin

    /nfeccin urinaria

    )uchas otras enfermedades tam%iHn pueden causar estos sEntomas. -u doctor puede

    ayudarle a descu%rir si los sEntomas vienen de :9PAD.

    (Afecta !"PAD a otras partes del cuerpo?

    A menudo! personas con :9PAD desarrollan 5uistes en el hEgado. :stos 5uistes

    generalmente no causan pro%lemas. Algunas personas con :9PAD tienen aneurismas en

    el cere%ro. ,na aneurisma es un punto dH%il en un vaso sanguEneo. Aneurismas puede

    escaparse o romperse! causando dao de cere%ro o muerte. :l riesgo es mJs alto si alguien

    en su familia ha tenido una aneurisma. -i alguien en su familia tenEa una aneurisma! usted

    de%e tener una prue%a para aneurismas. Pida mJs informacin de su doctor.

    1nformacin Gratuita #e su M3#ico

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    ()%mo se trata !"PAD?

     0ingIn tratamiento 5uita los 5uistes. os doctores solamente tratan los pro%lemas

    relacionados a los 5uistes. as personas con :9PAD 5ue no tengan ningIn pro%lema no

    necesitan ningIn tratamiento. Algunos de los pro%lemas y los tratamientos son*

    Problema Opciones de Tratamiento

    Alta presin arterial Dieta! eGercicio! medicina

    -angre en la orina 0o necesita tratamiento

    Dolor de espalda o estmago )edicina! cirugEa para vaciar 5uistes grandes

    Piedras del rin )edicina! cirugEa! litotripsia (rompiendo piedras con sonido

    /nfeccin urinaria )edicina (anti%iticos

    Poco mJs 5ue la mitad de las personas con :9PAD desarrolla falla del rin. :sto casi

    nunca sucede durante la nie. -ucede generalmente cerca de la edad de 23 a 43 aos.Personas con falla del rin necesitan diálisis o un trasplante del riñón. Personas con

    :9PAD de%en visitar a un doctor regularmente para che5ueos. :stos che5ueos pueden

    ayudar a prevenir pro%lemas! o tratarlos antes de 5ue se empeoren.

    (Deben ser probados para !"PAD los otros miembros de mifamilia?

    -i usted tiene :9PAD! es posi%le 5ue un padre o hermano (hom%re o muGer tam%iHn tenga

    la enfermedad. :s posi%le 5ue ellos no tengan ningIn sEntoma. )uchas personas 5ue

    tienen :9PAD no lo sa%en. -u doctor pro%a%lemente sugerirJ 5ue estos familiaresconsigan ultrasonidos de los riones. Tam%iHn hay un anJlisis de sangre para :9PAD!

     pero es mucho mJs costoso.

    ,sted puede dar a sus familiares una hoGa de informacin llamada FCuando un familiar

    tiene :9PAD.F Pida una copia de su doctor! o descJrguelo en*

    http://kidneyweb.net/handouts/ADPKD-Relatives.doc

    (D%nde puedo conseguir m*s informaci%n?

    -u doctor del rin es su primera fuente para la informacin. PregIntelo cual5uier

     pregunta 5ue usted tenga. :scri%e preguntas 5ue tiene para no olvidarlas en la visitasiguiente. a 6undacin de :9P (PKD 6oundation tiene informacin y ayuda para

     personas con :9PAD.PKD 6oundation TelHfono* 7833PKDC,9:

    ;>=@ Correo electrnico* pkdcurepkdcure.org

    &e%* www.pkdcure.org

    a Bi%lioteca 0acional de )edicina de los ::. ,,. presenta mJs informacin a5uE*

    1nformacin Gratuita #e su M3#ico

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    http://www.nlm.nih.gov/medlineplus/spanish/ency/article/0000!.htm

    © 2! por Robert S. Gillespie. Re"isa#o 2$!. 4sta obra se licensia por la icensia Creati"eCommons (tribucion)*oComercial 2.+. Para e5aminar una copia #e esta licensia, pase a-i#neyeb.net$license.htm.

    1nformacin Gratuita #e su M3#ico