Nephrology Book

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Autosomal Dominant Polycystic Kidney Disease

Aka: Autosomal Dominant Polycystic Kidney Disease, Polycystic Kidney Disease, ADPKD
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  1. Epidemiology
    1. Prevalence: 500,000 patients in United States
    2. Symptom onset most often after age 30 years
  2. Pathophysiology
    1. Type 1 (86% of cases, 95% of cases in Caucasians)
      1. ADPKD1 gene on short arm of chromosome 16
      2. End-stage renal disease average age of onset: 69
      3. Children of affected patients have 50% risk
    2. Type 2 (14% of cases)
      1. ADPKD2 gene on chromosome 4
      2. End-stage renal disease average age of onset: 57
  3. Symptoms
    1. Flank or Abdominal Pain (60%)
  4. Signs
    1. Hypertension
  5. Labs
    1. Urinalysis
      1. Hematuria
  6. Radiology
    1. Renal Ultrasound
    2. Abdominal CT
  7. Diagnosis
    1. Adults
      1. Three or more renal cysts
      2. Bilateral renal parenchymal involvement
    2. Child
      1. Two renal cysts
      2. Involvement may be unilateral or bilateral
  8. Complications
    1. Renal Failure (45%)
      1. Accounts for 5-10% of End Stage Renal Disease (ESRD)
    2. Hypertension
      1. Children: 30%
      2. Adults: 60%
      3. End Stage Renal Disease: 80%
    3. Hematuria (associated with renal cyst rupture)
    4. Recurrent Urinary Tract Infection
    5. Nephrolithiasis (20%)
    6. Renal Cell Carcinoma
    7. Cerebral Aneurysm (5-10%)
    8. Adult polycystic liver disease - liver cysts (34-78%)
    9. Mitral Valve Prolapse (26%)
    10. Colonic diverticulum with risk of perforation
  9. Risk Factors for End Stage Renal Disease
    1. ADPKD1 gene
    2. Early onset at young age
    3. Male
    4. Black race
    5. Sickle Cell Trait
    6. Hypertension
    7. Left Ventricular Hypertrophy
    8. Gross Hematuria
    9. Proteinuria
    10. Large renal volume
    11. Hepatic cysts
    12. Urinary Tract Infections in males
    13. Three or more pregnancies
  10. Management
    1. Hypertension control (Goal Blood Pressure < 130/85)
      1. ACE Inhibitor
      2. Diuretic (caution when used with ACE Inhibitor)
      3. Calcium Channel Blocker
    2. Hematuria: Most resolve spontaneously
      1. Maximize hydration
      2. Correct coagulopathy
      3. Bed rest
    3. Proteinuria (30%)
    4. Flank and Abdominal Pain with cyst expansion
      1. Analgesics
      2. Rest
      3. Percutaneous cyst drainage and Alcohol sclerosis
      4. Open cyst reduction surgery
    5. Parenchymal cyst infection
      1. Trimethoprim Sulfamethoxazole
      2. Chloramphenicol
      3. Ciprofloxacin
    6. Renal Failure
      1. See Chronic Renal Failure
  11. References
    1. Beebe (1996) Am Fam Physician 53(3):925-31
    2. Gibson (2002) Practitioner 246:450-3

Polycystic Kidney, Autosomal Dominant (C0085413)

Definition (NCI) Polycystic kidney disease inherited in an autosomal dominant pattern. Symptoms usually appear at middle age and include abdominal pain, hematuria and high blood pressure. Patients may develop brain aneurysms and liver cysts.
Definition (MSH) Kidney disorders with autosomal dominant inheritance and characterized by multiple CYSTS in both KIDNEYS with progressive deterioration of renal function.
Concepts Congenital Abnormality (T019) , Disease or Syndrome (T047)
MSH D016891
ICD9 753.13
ICD10 Q61.2
SnomedCT 28728008
English Autosomal Dominant Polycystic Kidney, Kidney, Polycystic, Autosomal Dominant, Polycystic Kidney, Autosomal Dominant, ADPKD, Polycystic kidney, autosomal dominant, ADPKD-Aut dom polycyst kidney, Autosom dom polycystic kidney, Polycystic kidney, adult type, POLYCYSTIC KIDNEY DISEASE, ADULT, APKD, KPAD, ADULT POLYCYSTIC KIDNEY DIS, POLYCYSTIC KIDNEY DIS AUTOSOMAL DOMINANT, ADPK, Polycystic kidneys-adult type, autosomal dominant polycystic kidney disease, autosomal dominant polycystic kidney disease (diagnosis), Polycyst kid-autosom dom, Autosomal Dominant Polycystic Kidney Disease, Polycystic Kidney, Autosomal Dominant [Disease/Finding], adult disease kidney polycystics, adult disease kidney polycystic, adult polycystic kidney disease, adpkd, Adult Polycystic Kidney Disease, Polycystic Kidney Disease, Autosomal Dominant, Autosomal dominant adult polycystic kidney disease, Polycystic kidney disease, adult type, ADPKD - Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease, Polycystic kidneys - adult type, Polycystic kidney disease, adult type (disorder), cyst; kidney, multiple, adult type, polycystic; degeneration, kidney, adult type, polycystic; kidney, adult type
Dutch polycystische nier, autosomaal dominant, cyste; nier, multipel, volwassen type, polycysteus; degeneratie, nier, volwassen type, polycysteus; nier, volwassen type, Polycystische nier, volwassen type, Autosomaal dominante polycystische nier, Nier, autosomaal dominante polycystische, Polycystische nier, autosomaal dominante
French Rein polykystique autosomique dominant, Maladie polykystique des reins autosomique dominante, Maladie polykystique rénale autosomique dominante, Polykystose rénale autosomique dominante, Rein polykystique de type autosomique dominant
German polyzystische Niere, autosomal-dominant, Polyzystische Niere, Erwachsenentyp, Autosomal-dominante polyzystische Niere, Niere, polyzystische, autosomal-dominante, Polyzystische Niere, autosomal-dominante
Italian Rene policistico, autosomico dominante, Malattia del rene policistico autosomico dominante, ADPKD, Rene policistico autosomico dominante
Portuguese Rim poliquístico autossómico dominante, Rim Policístico Autossômico Dominante
Spanish Riñón poliquístico autosómico dominante, Rinon Poliquistico Autosomico Dominante, Riñón Poliquístico Dominante Autosómico, Riñón Poliquístico Autosómico Dominante, Rinon Poliquistico Dominante Autosomico, enfermedad poliquística del riñón, tipo adulto, enfermedad renal poliquística, forma autosómica dominante, poliquistosis renal, tipo adulto (trastorno), poliquistosis renal, tipo adulto
Swedish Polycystnjure, autosomal dominant
Czech polycystické ledviny autozomálně dominantní, Polycystická ledvina, autosomálně dominantní
Finnish Vallitsevasti periytyvä autosomaalinen munuaisten monirakkulatauti
Russian AUTOSOMNO-DOMINANTNOE NASLEDOVANIE PRI POLIKISTOZE POCHKI, POLIKISTOZ POCHKI, AUTOSOMNO-DOMINANTNOE NASLEDOVANIE, POCHKI POLIKISTOZ AUTOSOMNO-DOMINANTNYI, POCHEK POLIKISTOZ AUTOSOMNO-DOMINANTNYI, POLIKISTOZ POCHKI AUTOSOMNO-DOMINANTNYI, АУТОСОМНО-ДОМИНАНТНОЕ НАСЛЕДОВАНИЕ ПРИ ПОЛИКИСТОЗЕ ПОЧКИ, ПОЛИКИСТОЗ ПОЧКИ, АУТОСОМНО-ДОМИНАНТНОЕ НАСЛЕДОВАНИЕ, ПОЛИКИСТОЗ ПОЧКИ АУТОСОМНО-ДОМИНАНТНЫЙ, ПОЧЕК ПОЛИКИСТОЗ АУТОСОМНО-ДОМИНАНТНЫЙ, ПОЧКИ ПОЛИКИСТОЗ АУТОСОМНО-ДОМИНАНТНЫЙ
Korean 보통 염색체 우성의 다낭성 콩팥(신장)
Japanese ｼﾞｮｳｾﾝｼｮｸﾀｲﾕｳｾｲﾀﾊﾂｾｲﾉｳﾎｳｼﾞﾝ, 常染色体優性多嚢胞腎, 腎嚢胞-常染色体優性多発性, 嚢胞腎-多発性-常染色体優性, 多嚢胞腎-常染色体優性, 多発性嚢胞腎-常染色体優性, 多発性腎嚢胞-常染色体優性, 常染色体優性多発性嚢胞腎, 常染色体優性多発性腎嚢胞, 腎嚢胞-多発性-常染色体優性
Croatian POLICISTIČNI BUBREG, AUTOSOMNO DOMINANTNI
Polish Wielotorbielowatość nerek autosomalna dominująca, ADPKD, Zwyrodnienie torbielowate typu dorosłych, ADWN, Torbielowatość nerek autosomalna dominująca
Hungarian Vese polycystás, autosomalis domináns
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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