Polycystic kidney disease differentiating polycystic kidney disease from other diseases: Difference between revisions
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* microalbuminuria | |||
* proteinuria | |||
| style="background: #F5F5F5; padding: 5px;" |Ultrasonography of parents will show cysts | | style="background: #F5F5F5; padding: 5px;" |Ultrasonography of parents will show cysts | ||
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* microalbuminuria | |||
* proteinuria | |||
| style="background: #F5F5F5; padding: 5px;" | -Malformation of distal collecting tubules | | style="background: #F5F5F5; padding: 5px;" | -Malformation of distal collecting tubules | ||
-Nephrolithiasis | -Nephrolithiasis | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: M. Khurram Afzal, MD [2] Aarti Narayan, M.B.B.S [3]
Overview
Several cystic diseases can have features of ADPKD namely autosomal recessive polycystic kidney disease (ARPKD, simple renal cysts, autosomal dominant polycystic liver disease, medullary cystic kidney disease and tuberous sclerosis complex.
Differentiating Polycystic kidney disease from other Diseases
- Autosomal dominant and autosomal recessive polycystic kidney disease must be differentiated from other diseases that cause renal cysts, such as simple renal cysts, medullary sponge kidney, tuberous sclerosis complex, von hippel-lindau disease.
Preferred Table
| Diseases | Clinical manifestations | Para-clinical findings | Gold standard | Additional findings | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Symptoms | Physical examination | ||||||||||||
| Lab Findings | Imaging | Histopathology | |||||||||||
| Flank/abdominal pain | Polyuria | Hematuria | Hepatomegaly | Bilateral flank masses | Hypertension | Urinalysis | Ultrasound | CT scan | MRI | ||||
| Autosomal dominant polycystic kidney disease (ADPKD) | + | + | + | + | + | + |
|
Ultrasonography of parents will show cysts | Extrarenal manifestations:
-Hepatic cysts -Pancreatic cysts | ||||
| Autosomal recessive polycystic kidney disease (ARPKD)[1] | + | + | + | + | + | + |
|
Ultrasonography of parents will not show cysts | Extrarenal manifestations:
-Portal fibrosis -Portal hypertension -Ascending cholangitis -Biliary dysgenesis -Pulmonary hypoplasia in neonates | ||||
| Simple renal cyst[2] | - | - | - | - | + | - | - | -Normal sized kidneys
-Smooth contour |
-Negative family history of renal cystic disease
-Age ≥ 30 yrs | ||||
| Medullary sponge kidney[3] | + | +/- | + | - | + | - |
|
-Malformation of distal collecting tubules
-Nephrolithiasis |
-Nephrolithiasis
-Renal cortex is spared -Medullary nephrocalcinosis |
-Renal cortex is spared | - | -Tubular acidosis
-Recurrent urinary tract infections | |
| Tuberous sclerosis complex[4][5] | +/- | +/- | +/- | - | + | - | -Renal cysts
-Renal angiomyolipomas |
CT kidneys will differentiate cystic and solid lesions, as well as renal angiomyolipomas
CT brain shows: -Cortical hemartomas -White matter lesions |
-Seizures
-Mental retardation -Angiofibroma (face) -Shagreen patch | ||||
| Von Hippel-Lindau disease[6][7] | +/- | +/- | +/- | - | + | - | -Renal cysts | -Clear cell abnormalities | -Retinal hemangioma
-Clear cell renal cell carcinoma -Cerebellar and spinal hemangioblastoma -Pheochromocytoma -Pancreatic tumor | ||||
References
- ↑ Adeva M, El-Youssef M, Rossetti S, Kamath PS, Kubly V, Consugar MB, Milliner DM, King BF, Torres VE, Harris PC (January 2006). "Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD)". Medicine (Baltimore). 85 (1): 1–21. doi:10.1097/01.md.0000200165.90373.9a. PMID 16523049.
- ↑ Ravine D, Gibson RN, Donlan J, Sheffield LJ (December 1993). "An ultrasound renal cyst prevalence survey: specificity data for inherited renal cystic diseases". Am. J. Kidney Dis. 22 (6): 803–7. PMID 8250026.
- ↑ Gambaro G, Feltrin GP, Lupo A, Bonfante L, D'Angelo A, Antonello A (February 2006). "Medullary sponge kidney (Lenarduzzi-Cacchi-Ricci disease): a Padua Medical School discovery in the 1930s". Kidney Int. 69 (4): 663–70. doi:10.1038/sj.ki.5000035. PMID 16395272.
- ↑ Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K (2008). "Pictorial review of tuberous sclerosis in various organs". Radiographics. 28 (7): e32. doi:10.1148/rg.e32. PMID 18772274.
- ↑ Manoukian SB, Kowal DJ (May 2015). "Comprehensive imaging manifestations of tuberous sclerosis". AJR Am J Roentgenol. 204 (5): 933–43. doi:10.2214/AJR.13.12235. PMID 25905927.
- ↑ Maher ER, Yates JR, Harries R, Benjamin C, Harris R, Moore AT, Ferguson-Smith MA (November 1990). "Clinical features and natural history of von Hippel-Lindau disease". Q. J. Med. 77 (283): 1151–63. PMID 2274658.
- ↑ Lonser RR, Glenn GM, Walther M, Chew EY, Libutti SK, Linehan WM, Oldfield EH (June 2003). "von Hippel-Lindau disease". Lancet. 361 (9374): 2059–67. doi:10.1016/S0140-6736(03)13643-4. PMID 12814730.