Polycystic kidney disease differentiating polycystic kidney disease from other diseases: Difference between revisions
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! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Flank/abdominal pain | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Flank/abdominal pain | ||
! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Polyuria | ! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Polyuria | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hematuria | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hematuria | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepatomegaly | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hepatomegaly | ||
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| style="background: #DCDCDC; padding: 5px; text-align: center;" |Tuberous sclerosis complex<ref name="pmid18772274">{{cite journal |vauthors=Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K |title=Pictorial review of tuberous sclerosis in various organs |journal=Radiographics |volume=28 |issue=7 |pages=e32 |date=2008 |pmid=18772274 |doi=10.1148/rg.e32 |url=}}</ref><ref name="pmid25905927">{{cite journal |vauthors=Manoukian SB, Kowal DJ |title=Comprehensive imaging manifestations of tuberous sclerosis |journal=AJR Am J Roentgenol |volume=204 |issue=5 |pages=933–43 |date=May 2015 |pmid=25905927 |doi=10.2214/AJR.13.12235 |url=}}</ref> | | style="background: #DCDCDC; padding: 5px; text-align: center;" |Tuberous sclerosis complex<ref name="pmid18772274">{{cite journal |vauthors=Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K |title=Pictorial review of tuberous sclerosis in various organs |journal=Radiographics |volume=28 |issue=7 |pages=e32 |date=2008 |pmid=18772274 |doi=10.1148/rg.e32 |url=}}</ref><ref name="pmid25905927">{{cite journal |vauthors=Manoukian SB, Kowal DJ |title=Comprehensive imaging manifestations of tuberous sclerosis |journal=AJR Am J Roentgenol |volume=204 |issue=5 |pages=933–43 |date=May 2015 |pmid=25905927 |doi=10.2214/AJR.13.12235 |url=}}</ref> | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]
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
Several cystic diseases can have a presentation similar to ADPKD especially given the variability in phenotype and severity. Below is a list of the most common cystic diseases in the differential diagnosis of autosomal dominant polycystic kidney disease:[1]
- Autosomal recessive polycystic kidney disease
- Simple renal cysts
- Autosomal dominant polycystic liver disease
- Medullary cystic kidney disease
- Tuberous sclerosis complex
- Von Hippel-Lindau disease
- Nephronophthisis
- Joubert syndrome
- Bardet-Biedel syndrome
- Meckel-Gruber syndrome
- Orofacial digital syndrome type 1
- Glomerulocystic kidney disease
- [Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].
- [Disease name] must be differentiated from [differential dx1], [differential dx2], and [differential dx3].
- As [disease name] manifests in a variety of clinical forms, differentiation must be established in accordance with the particular subtype. [Subtype name 1] must be differentiated from other diseases that cause [clinical feature 1], such as [differential dx1] and [differential dx2]. In contrast, [subtype name 2] must be differentiated from other diseases that cause [clinical feature 2], such as [differential dx3] and [differential dx4].
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 | Lab 1 | Lab 2 | Lab 3 | Imaging 1 | Imaging 2 | Imaging 3 | ||||
Autosomal dominant polycystic kidney disease (ADPKD) | + | + | + | + | + | + | Extrarenal manifestations:
-Hepatic cysts -Pancreatic cysts -Ultrasonography of parents will show cysts | ||||||||
Autosomal recessive polycystic kidney disease (ARPKD) | + | + | + | + | + | + | Extrarenal manifestations:
-Portal fibrosis -Portal hypertension -Ascending cholangitis -Biliary dysgenesis -Pulmonary hypoplasia in neonates -Ultrasonography of parents will not show cysts | ||||||||
Simple renal cyst[2] | -Negative family history of renal cystic disease
-Age ≥ 30 yrs | ||||||||||||||
Medullary sponge kidney | |||||||||||||||
Tuberous sclerosis complex[3][4] | +/- | +/- | +/- | - | + | - | CT brain shows:
-cortical hemartomas -white matter lesions |
CT kidneys will differentiate cystic and solid lesions, as well as renal angiomyolipomas | -Seizures
-Mental retardation -Angiofibroma (face) -Renal cysts -Renal angiomyolipomas | ||||||
Von Hippel-Lindau disease[5][6] | +/- | +/- | +/- | - | + | - | -Retinal hemangioma
-Clear cell renal cell carcinoma -Cerebellar and spinal hemangioblastoma -Pheochromocytoma -Pancreatic tumor |
References
- ↑ 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.
- ↑ 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.
- ↑ 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.