Polycystic kidney disease natural history
|
Polycystic kidney disease Microchapters |
|
Differentiating Polycystic kidney disease from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
Polycystic kidney disease natural history On the Web |
|
American Roentgen Ray Society Images of Polycystic kidney disease natural history |
|
Risk calculators and risk factors for Polycystic kidney disease natural history |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: M. Khurram Afzal, MD [2], Serge Korjian, Yazan Daaboul
Overview
The earliest clinical signs of disease in patients with ADPKD include impaired renal concentrating capacity and hypertension. Other signs include flank pain, nephrolithiasis and urinary tract infections. In general half of the patients diagnosed with ADPKD will progress to ESRD by age 60. PDK1 mutants usually progress faster than PDK2 mutants. Factors associated with worse renal outcome include early age at diagnosis, male gender, uncontrolled hypertension, left ventricular hypertrophy, and cystic liver. Extra-renal manifestations in ADPKD include hepatic cysts usually more prevalent in women and with advancing age and declining renal function. Cysts can also be seen in the seminal vesicles, pancreas, and arachnoid membrane. Furthermore, the development of intracranial aneurysms can be a lethal complication in ADPKD patients whose risk is closely linked to the family history of aneurysms. Mitral valve prolapse is also a common cardiac manifestation seen in 25% of patients. Most cases of ARPKD present in the neonatal period with some disease findings detected on prenatal ultrasound. Most feared and common complication of ARPKD is pulmonary hypoplasia. Half of ARPKD patients usually progress to ESRD by age of 10. The prognosis of ARPKD improves in patients who survive the first few months of life. Survival at 15 years for patients of ARPKD ranges from 50% - 80%.
Natural History, Complications, and Prognosis
Natural History
Autosomal dominant polycystic kidney disease (ADPKD):
- The earliest detectable functional aberration seen in patients with ADPKD is impaired concentrating capacity with a suboptimal increase in urinary osmolality following water deprivation.[1]
- The second early manifestation of disease is hypertension. Up to 75% of patients with ADPKD on imaging without any renal insufficiency are hypertensive.[2]
- Even in young patients, 50% of those aged 20-34 years are hypertensive despite normal renal function.[3]
- Overt clinical signs and symptoms of renal disease usually appear during the fourth or fifth decade.[4]
Autosomal recessive polycystic kidney disease (ARPKD):
- Most affected individuals present in the neonatal period with some disease findings detected in prenatal obstetric ultrasounds.[5]
- The most common initial findings in ARPKD patients involve abnormal renal structure and function.[6]
- Approximately 30% of patients have no lab abnormalities at presentation.
Complications
Prognosis
Autosomal dominant polycystic kidney disease (ADPKD):
- Approximately 60% of patients suffer from flank pain often requiring cyst decompression surgery. Expanding cysts can often by complicated by hemorrhage that self-resolves but usually causes significant pain.[4]
- Generally, PKD1 mutants have more severe renal disease with mean age at onset of ESRD around 50 years compared to 75 years in PKD2 mutants. But, regardless of the mutation, 50% of ADPKD patients will reach ESRD by age 60 years.[17]
- Hematuria can be seen in ADPKD especially in advanced cases; however, overt proteinuria is usually uncommon in the context of ADPKD, and proteinuria > 1 g/day should prompt the consideration of a second disease process.[18][4]
- Several factors have been linked to a worse renal outcome (renal function for given age) including early age at diagnosis, male gender, uncontrolled hypertension, left ventricular hypertrophy, cystic liver, gross hematuria, larger kidney volume, and urinary tract infections.[19]
- The aneurysms are usually asymptomatic and the mean age at rupture is at 39 years, 12 years younger than in the general population.[10]
- Significant diverticulosis can be seen in more than half of ADPKD patients especially those in ESRD on hemodialysis.[20]
Autosomal recessive polycystic kidney disease (ARPKD):
- Half of ARPKD patients usually progress to ESRD by the age of 10.
- Other morbidities include growth retardation, recurrent UTIs, and portal hypertension due to liver involvement.[21]
- Mortality is still significantly elevated with around one-fourth of patients dying in the first year of life.
- The first month is usually the most critical period with a mortality rate of approximately 15%..[22]
- A significant portion of these patients have varying degrees of pulmonary hypoplasia that is incompatible with life related to the massive intra-abdominal size of the kidneys.[23]
- Patients with mild pulmonary hypoplasia might develop chronic lung disease some of which require ventilation support.
- The prognosis improves in patients that survive the first few months of life.
- Portal hypertension secondary to hepatic fibrosis is often the major cause of mortality in these patients.[24]
- Survival at 15 years ranges from 50 to 80%. Sixty percent of these patients will not require any renal replacement therapy. [25]
References
- ↑ Gabow PA, Kaehny WD, Johnson AM, Duley IT, Manco-Johnson M, Lezotte DC; et al. (1989). "The clinical utility of renal concentrating capacity in polycystic kidney disease". Kidney Int. 35 (2): 675–80. PMID 2709672.
- ↑ Gabow PA (1990). "Autosomal dominant polycystic kidney disease--more than a renal disease". Am J Kidney Dis. 16 (5): 403–13. PMID 2239929.
- ↑ Kelleher CL, McFann KK, Johnson AM, Schrier RW (2004). "Characteristics of hypertension in young adults with autosomal dominant polycystic kidney disease compared with the general U.S. population". Am J Hypertens. 17 (11 Pt 1): 1029–34. doi:10.1016/j.amjhyper.2004.06.020. PMID 15533729.
- ↑ 4.0 4.1 4.2 4.3 Fick GM, Gabow PA (1994). "Natural history of autosomal dominant polycystic kidney disease". Annu Rev Med. 45: 23–9. doi:10.1146/annurev.med.45.1.23. PMID 8198379.
- ↑ Sweeney WE, Avner ED (2006). "Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD)". Cell Tissue Res. 326 (3): 671–85. doi:10.1007/s00441-006-0226-0. PMID 16767405.
- ↑ Zerres K, Rudnik-Schöneborn S, Steinkamm C, Becker J, Mücher G (1998). "Autosomal recessive polycystic kidney disease". J Mol Med (Berl). 76 (5): 303–9. PMID 9587064.
- ↑ Schwab SJ, Bander SJ, Klahr S (1987). "Renal infection in autosomal dominant polycystic kidney disease". Am J Med. 82 (4): 714–8. PMID 3565428.
- ↑ 8.0 8.1 Gabow PA, Johnson AM, Kaehny WD, Manco-Johnson ML, Duley IT, Everson GT (1990). "Risk factors for the development of hepatic cysts in autosomal dominant polycystic kidney disease". Hepatology. 11 (6): 1033–7. PMID 2365280 Check
|pmid=value (help). - ↑ Bae KT, Zhu F, Chapman AB, Torres VE, Grantham JJ, Guay-Woodford LM; et al. (2006). "Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort". Clin J Am Soc Nephrol. 1 (1): 64–9. doi:10.2215/CJN.00080605. PMID 17699192 Check
|pmid=value (help). - ↑ 10.0 10.1 Torres VE, Harris PC, Pirson Y (2007). "Autosomal dominant polycystic kidney disease". Lancet. 369 (9569): 1287–301. doi:10.1016/S0140-6736(07)60601-1. PMID 17434405.
- ↑ Torres VE, Cai Y, Chen X, Wu GQ, Geng L, Cleghorn KA; et al. (2001). "Vascular expression of polycystin-2". J Am Soc Nephrol. 12 (1): 1–9. PMID 11134244 Check
|pmid=value (help). - ↑ Pirson Y, Chauveau D, Torres V (2002). "Management of cerebral aneurysms in autosomal dominant polycystic kidney disease". J Am Soc Nephrol. 13 (1): 269–76. PMID 11752048.
- ↑ Hossack KF, Leddy CL, Johnson AM, Schrier RW, Gabow PA (1988). "Echocardiographic findings in autosomal dominant polycystic kidney disease". N Engl J Med. 319 (14): 907–12. doi:10.1056/NEJM198810063191404. PMID 3419455.
- ↑ Zerres K, Rudnik-Schöneborn S, Steinkamm C, Becker J, Mücher G (1998). "Autosomal recessive polycystic kidney disease". J Mol Med (Berl). 76 (5): 303–9. PMID 9587064.
- ↑ Sweeney WE, Avner ED (2006). "Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD)". Cell Tissue Res. 326 (3): 671–85. doi:10.1007/s00441-006-0226-0. PMID 16767405.
- ↑ Guay-Woodford LM, Desmond RA (2003). "Autosomal recessive polycystic kidney disease: the clinical experience in North America". Pediatrics. 111 (5 Pt 1): 1072–80. PMID 12728091.
- ↑ Hateboer N, v Dijk MA, Bogdanova N, Coto E, Saggar-Malik AK, San Millan JL; et al. (1999). "Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group". Lancet. 353 (9147): 103–7. PMID 10023895.
- ↑ Gabow PA, Duley I, Johnson AM (1992). "Clinical profiles of gross hematuria in autosomal dominant polycystic kidney disease". Am J Kidney Dis. 20 (2): 140–3. PMID 1496966.
- ↑ Gabow PA, Johnson AM, Kaehny WD, Kimberling WJ, Lezotte DC, Duley IT; et al. (1992). "Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease". Kidney Int. 41 (5): 1311–9. PMID 1614046.
- ↑ Lederman ED, McCoy G, Conti DJ, Lee EC (2000). "Diverticulitis and polycystic kidney disease". Am Surg. 66 (2): 200–3. PMID 10695753 Check
|pmid=value (help). - ↑ Guay-Woodford LM, Desmond RA (2003). "Autosomal recessive polycystic kidney disease: the clinical experience in North America". Pediatrics. 111 (5 Pt 1): 1072–80. PMID 12728091.
- ↑ Guay-Woodford LM, Desmond RA (2003). "Autosomal recessive polycystic kidney disease: the clinical experience in North America". Pediatrics. 111 (5 Pt 1): 1072–80. PMID 12728091.
- ↑ Sweeney WE, Avner ED (2006). "Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD)". Cell Tissue Res. 326 (3): 671–85. doi:10.1007/s00441-006-0226-0. PMID 16767405.
- ↑ Zerres K, Rudnik-Schöneborn S, Steinkamm C, Becker J, Mücher G (1998). "Autosomal recessive polycystic kidney disease". J Mol Med (Berl). 76 (5): 303–9. PMID 9587064.
- ↑ Fonck C, Chauveau D, Gagnadoux MF, Pirson Y, Grünfeld JP (2001). "Autosomal recessive polycystic kidney disease in adulthood". Nephrol Dial Transplant. 16 (8): 1648–52. PMID 11477168.