ࡱ>  *bjbj "OAAAdU!. . :$ǁi>A@ >+S&&&8A&&&v4)|@ȃx>i08y ||"A| B>,&$ BBB>>%BBBBBBBBBBBB : ADPKD: Autosomal Dominant Polycystic Kidney Disease By 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 (ARPKD), a completely different disease. What causes ADPKD? Genes cause ADPKD. Genes are the instructions on how to build your body. Genes control many things, such as the color of your hair or eyes. Children get genes from both of their parents. Genes also control some kidney diseases. When 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 number of patients have a spontaneous form of ADPKD. This form does not come from the parents. ADPKD is not contagious. You cant catch it from someone else. ADPKD is not a form of cancer. What are the symptoms of ADPKD? Most children with ADPKD feel fine. They have no symptoms at all. Many adults with ADPKD also do not have any symptoms. When people have problems from ADPKD, they may have: High blood pressure Blood in the urine Back or stomach pain Kidney stones Urinary infection Many other diseases can also cause these symptoms. Your doctor can help you find out if the symptoms are from ADPKD. Does ADPKD affect other parts of the body? People with ADPKD often develop cysts in the liver. These cysts usually dont cause problems. Some people with ADPKD have aneurysms (an-yur-isms) in the brain. An aneurysm is a weak spot in a blood vessel. Aneurysms can leak or burst, causing brain damage or even death. The risk is higher if someone in your family has had an aneurysm. If someone in your family had an aneurysm, you should have a test for one. Ask your doctor for more information. How is ADPKD treated? No treatment makes the cysts go away. Doctors only treat problems related to the cysts. People with ADPKD who dont have any problems dont need any treatment. Some of the problems and treatments are: ProblemTreatment optionsHigh blood pressureDiet, exercise, medicineBlood in the urineNo treatmentBack or stomach painMedicine, surgery to drain large cystsKidney stonesMedicines, surgery, lithotripsy (breaking stones with sound waves)Urinary infectionMedicine (antibiotics) A little more than half of people with ADPKD develop kidney failure. This almost never happens during childhood. It usually happens around age 40 to 50. 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 problems, or treat them before they get worse. Should other family members get tested for ADPKD? If you have ADPKD, its possible that your parent, brothers or sisters also have the disease. They may not have any symptoms. Many people have ADPKD and dont know it. Your doctor will probably suggest that these relatives get ultrasounds of their kidneys. There is also a blood test for ADPKD, but it is much more expensive. You can give your relatives an information sheet called When a relative has ADPKD. Ask your doctor for a copy, or download it at: http://kidneyweb.net/handouts/ADPKD-Relatives.doc Where can I get more information? Your kidney doctor is your first source for information. Be sure to ask any questions you have. You may want to write down questions so you can ask them at the next visit. The PKD Foundation provides information and support for people with ADPKD. PKD Foundation Phone: 1-800-PKD-CURE 9221 Ward Parkway, Suite 400 Fax: 816-931-8655 Kansas City, MO 64114-3367 E-mail: pkdcure@pkdcure.org Web: www.pkdcure.org The National Library of Medicine has additional information online at: http://www.nlm.nih.gov/medlineplus/ency/article/000502.htm  2006 by Robert S. Gillespie. Revised 2/06. This work is licensed under the Creative Commons Attribution-Noncommercial 2.5License. To view a copy of this license, visit KidneyWeb.net/license.htm. Enfermedad Renal Poliqustica Autosmica Dominante (ERPAD) (Autosomal Dominant Polycystic Kidney Disease) Escrito por Robert S. Gillespie, M.D., M.P.H. Nefrlogo Peditrico (Especialista de Riones de Nios) Cul es ERPAD? ERPAD es una enfermedad del rin en que los riones tienen quistes. Los quistes son colecciones de lquido. Inicialmente, los quistes son muy pequeos. Pero pueden crecer con tiempo. No confunda ERPAD con la enfermedad renal poliqustica autosmica recesiva (ERPAR), una enfermedad completamente distinta. Qu causa ERPAD? Los genes causan ERPAD. Los genes son las "instrucciones" cmo construir el cuerpo. Los genes controlan muchas cosas, como el color del pelo o los ojos. Los nios reciben genes de los dos padres. Los genes tambin controlan algunas enfermedades del rin. Cuando un nio tiene ERPAD, generalmente significa que un padre tiene ERPAD tambin. Es posible que este padre no sepa que l o ella tiene ERPAD. Un nmero pequeo de pacientes tiene una forma "espontnea" de ERPAD. Esta forma no viene de los padres. ERPAD no es contagioso. Usted no puede "cogerlo" algn otro. ERPAD no es ninguna forma de cncer. Cules son los sntomas de ERPAD? La mayora de los nios con ERPAD se sienten muy bien, y no tienen ningn sntoma. Muchos adultos con ERPAD tambin no tienen ningn sntoma. Cuando una persona tiene problemas de ERPAD, puede tener: Presin arterial alta Sangre en la orina Dolor de la espaldo o del estmago Piedras del rin Infeccin urinaria Muchas otras enfermedades tambin pueden causar estos sntomas. Su doctor puede ayudarle a descubrir si los sntomas vienen de ERPAD. Afecta ERPAD a otras partes del cuerpo? A menudo, personas con ERPAD desarrollan quistes en el hgado. Estos quistes generalmente no causan problemas. Algunas personas con ERPAD tienen aneurismas en el cerebro. Una aneurisma es un punto dbil en un vaso sanguneo. Aneurismas puede escaparse o romperse, causando dao de cerebro o muerte. El riesgo es ms alto si alguien en su familia ha tenido una aneurisma. Si alguien en su familia tena una aneurisma, usted debe tener una prueba para aneurismas. Pida ms informacin de su doctor. Cmo se trata ERPAD? Ningn tratamiento quita los quistes. Los doctores solamente tratan los problemas relacionados a los quistes. Las personas con ERPAD que no tengan ningn problema no necesitan ningn tratamiento. Algunos de los problemas y los tratamientos son: ProblemaOpciones de TratamientoAlta presin arterialDieta, ejercicio, medicinaSangre en la orinaNo necesita tratamientoDolor de espalda o estmagoMedicina, ciruga para vaciar quistes grandesPiedras del rinMedicina, ciruga, litotripsia (rompiendo piedras con sonido)Infeccin urinariaMedicina (antibiticos) Poco ms que la mitad de las personas con ERPAD desarrolla falla del rin. Esto casi nunca sucede durante la niez. Sucede generalmente cerca de la edad de 40 a 50 aos. Personas con falla del rin necesitan dilisis o un trasplante del rin. Personas con ERPAD deben visitar a un doctor regularmente para chequeos. Estos chequeos pueden ayudar a prevenir problemas, o tratarlos antes de que se empeoren. Deben ser probados para ERPAD los otros miembros de mi familia? Si usted tiene ERPAD, es posible que un padre o hermano (hombre o mujer) tambin tenga la enfermedad. Es posible que ellos no tengan ningn sntoma. Muchas personas que tienen ERPAD no lo saben. Su doctor probablemente sugerir que estos familiares consigan ultrasonidos de los riones. Tambin hay un anlisis de sangre para ERPAD, pero es mucho ms costoso. Usted puede dar a sus familiares una hoja de informacin llamada "Cuando un familiar tiene ERPAD." Pida una copia de su doctor, o descrguelo en: http://kidneyweb.net/handouts/ADPKD-Relatives.doc Dnde puedo conseguir ms informacin? Su doctor del rin es su primera fuente para la informacin. Pregntelo cualquier pregunta que usted tenga. Escribe preguntas que tiene para no olvidarlas en la visita siguiente. La Fundacin de ERP (PKD Foundation) tiene informacin y ayuda para personas con ERPAD. PKD Foundation Telfono: 1-800-PKD-CURE 9221 Ward Parkway, Suite 400 Fax: 816-931-8655 Kansas City, MO 64114-3367 Correo electrnico: pkdcure@pkdcure.org Web: www.pkdcure.org La Biblioteca Nacional de Medicina de los EE. UU. presenta ms informacin aqu: http://www.nlm.nih.gov/medlineplus/spanish/ency/article/000502.htm  2006 por Robert S. Gillespie. Revisado 2/06. Esta obra se licensia por la Licensia Creative Commons Atribucion-NoComercial 2.5. Para examinar una copia de esta licensia, pase a KidneyWeb.net/license.htm.     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