History

Autosomal recessive polycystic kidney disease

At birth, babies may present with large palpable flank masses that may cause difficulty in delivery. These babies may have classic Potter facies and abnormal extremities.

Parents or pediatricians may discover abdominal masses in older infants. Older infants may have abdominal distension secondary to renal masses or hepatosplenomegaly.

All patients with autosomal recessive polycystic kidney disease can present with urinary concentrating defects that can cause polyuria and polydipsia.

Autosomal dominant polycystic kidney disease (ADPKD)

The initial presentation in older children includes the following:

Abdominal pain
Urinary tract infections - These may manifest as pain, perinephric abscess, hemorrhage, chronic pyelonephritis, sepsis, and death
Abdominal or inguinal hernias
Renal insufficiency (rarely occurs in childhood)
Concentrating defects that cause polydipsia and polyuria (more common in autosomal recessive polycystic kidney disease)
Extrarenal manifestations of autosomal dominant polycystic kidney disease (more common in adults but can occur in children as young as age 1 y)

Autosomal recessive polycystic kidney disease

Patients present prenatally with massively enlarged kidneys and oligohydramnios. In infants, Potter facies with low-set, flattened ears; short, snubbed nose; deep eye creases; and micrognathia, all secondary to oligohydramnios, can be found. Clubfoot commonly occurs secondary to oligohydramnios because of pressure effect in utero.

An abdominal mass may manifest after the newborn period because of renal masses or hepatosplenomegaly. Impaired renal function is present in 70-80% of infants. Renal cysts in children may be an incidental finding.

Hepatic involvement is present in all children with autosomal recessive polycystic kidney disease but may not manifest in neonates (50-60%).

Hypertension may be severe and may be a presenting feature, even in patients with normal renal function. The pathophysiology is unknown, because renin levels are within the reference range. Cardiac hypertrophy and congestive heart failure (which may develop in patients with poorly managed hypertension) can also occur, and there can be evidence of portal hypertension.

Autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease commonly presents as low back pain with or without abdominal pain.^[13]Hypertension can present in patients of all age groups (even in patients with normal renal function), as a result of increased activation of the renin-angiotensin system, reduced renal blood flow, and sodium retention. In addition, patients may have signs of portal hypertension and CHF (although this is rare compared with autosomal recessive polycystic kidney disease).

Other presentations include the following:

Manifestations of stroke secondary to cerebral hemorrhage of ruptured aneurysms
Renal involvement - Often asymmetrical but usually bilateral
Renal masses
Hepatic cysts - These are usually asymptomatic in children, unlike in adults, in whom pain, infection, and hepatomegaly are present
Cerebral vessel aneurysms
Cardiovascular system manifestations - Mitral valve prolapse and, in children as well as adults, endocardial fibroelastosis
Increased left ventricular mass with diastolic dysfunction , even in normotensive children
Coronary aneurysms - Exclusively in adults

Differential Diagnoses

Osathanondh V, Potter EL. Pathogenesis of polycystic kidneys type 1 duse to hyperplasia of interstitial portions of collecting tubules. Arch Pathol. 1964 May. 77:466-73. [QxMD MEDLINE Link].
Osathanondh V, Potter EL. Pathogenesis of polysystic kidneys. Historical survey. Arch Pathol. 1964 May. 77:459-65. [QxMD MEDLINE Link].
Grantham JJ, Torres VE, Chapman AB, et al. Volume progression in polycystic kidney disease. N Engl J Med. 2006 May 18. 354(20):2122-30. [QxMD MEDLINE Link].
Yoder BK, Mulroy S, Eustace H, Boucher C, Sandford R. Molecular pathogenesis of autosomal dominant polycystic kidney disease. Expert Rev Mol Med. 2006 Jan 17. 8(2):1-22. [QxMD MEDLINE Link].
Sweeney WE Jr, Avner ED. Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD). Cell Tissue Res. 2006 Dec. 326(3):671-85. [QxMD MEDLINE Link].
Zerres K, Mücher G, Bachner L, et al. Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nat Genet. 1994 Jul. 7(3):429-32. [QxMD MEDLINE Link].
Sharp AM, Messiaen LM, Page G, et al. Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. J Med Genet. 2005 Apr. 42(4):336-49. [QxMD MEDLINE Link]. [Full Text].
Gunay-Aygun M, Avner ED, Bacallao RL, et al. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference. J Pediatr. 2006 Aug. 149(2):159-64. [QxMD MEDLINE Link]. [Full Text].
O'Brien K, Font-Montgomery E, Lukose L, et al. Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease. J Pediatr Gastroenterol Nutr. 2012 Jan. 54(1):83-9. [QxMD MEDLINE Link].
Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman Gerstein M, Piwnica-Worms K, Choyke P, et al. Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. Gastroenterology. 2013 Jan. 144(1):112-121.e2. [QxMD MEDLINE Link]. [Full Text].
Seeman T, Jansky P, Filip F, Bláhová K, Jaroš A. Increasing prevalence of hypertension during long-term follow-up in children with autosomal dominant polycystic kidney disease. Pediatr Nephrol. 2021 May 18. [QxMD MEDLINE Link].
Boyer O, Gagnadoux MF, Guest G, et al. Prognosis of autosomal dominant polycystic kidney disease diagnosed in utero or at birth. Pediatr Nephrol. 2007 Mar. 22(3):380-8. [QxMD MEDLINE Link].
Bajwa ZH, Sial KA, Malik AB, Steinman TI. Pain patterns in patients with polycystic kidney disease. Kidney Int. 2004 Oct. 66(4):1561-9. [QxMD MEDLINE Link]. [Full Text].
Chapman AB. Approaches to testing new treatments in autosomal dominant polycystic kidney disease: insights from the CRISP and HALT-PKD studies. Clin J Am Soc Nephrol. 2008 Jul. 3(4):1197-204. [QxMD MEDLINE Link].
Torres VE, Chapman AB, Devuyst O, Gansevoort RT, Grantham JJ, Higashihara E, et al. Tolvaptan in patients with autosomal dominant polycystic kidney disease. N Engl J Med. 2012 Dec 20. 367 (25):2407-18. [QxMD MEDLINE Link].
Torres VE, Chapman AB, Devuyst O, Gansevoort RT, Perrone RD, Koch G, et al. Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease. N Engl J Med. 2017 Nov 16. 377 (20):1930-1942. [QxMD MEDLINE Link].
Torres VE, Chapman AB, Devuyst O, Gansevoort RT, Perrone RD, Dandurand A, et al. Multicenter, open-label, extension trial to evaluate the long-term efficacy and safety of early versus delayed treatment with tolvaptan in autosomal dominant polycystic kidney disease: the TEMPO 4:4 Trial. Nephrol Dial Transplant. 2018 Mar 1. 33 (3):477-489. [QxMD MEDLINE Link].
Sweeney WE, Chen Y, Nakanishi K, et al. Treatment of polycystic kidney disease with a novel tyrosine kinase inhibitor. Kidney Int. 2000 Jan. 57(1):33-40. [QxMD MEDLINE Link].
Tesar V, Ciechanowski K, Pei Y, Barash I, Shannon M, Li R, et al. Bosutinib versus Placebo for Autosomal Dominant Polycystic Kidney Disease. J Am Soc Nephrol. 2017 Nov. 28 (11):3404-3413. [QxMD MEDLINE Link].
U.S. Food & Drug Administration. FDA limits duration and usage of Samsca (tolvaptan) due to possible liver injury leading to organ transplant or death. FDA Drug Safety Communication. Available at https://www.fda.gov/Drugs/DrugSafety/ucm350062.htm. May 12, 2017; Accessed: November 3, 2017.

Media Gallery

Sonogram shows cysts with bilaterally enlarged kidneys. These findings are compatible with a diagnosis of autosomal dominant polycystic kidney disease (ADPKD).
Sonogram shows cysts with bilaterally enlarged kidneys. These findings are compatible with a diagnosis of autosomal dominant polycystic kidney disease (ADPKD).
Sonogram shows cysts with bilaterally enlarged kidneys. These findings are compatible with a diagnosis of autosomal dominant polycystic kidney disease (ADPKD).
Frontal excretory urogram of autosomal dominant polycystic kidney disease (ADPKD) shows a spider-legs configuration of the collecting system secondary to compression due to cysts.
Lateral excretory urogram of autosomal dominant polycystic kidney disease (ADPKD) shows a spider-legs configuration of the collecting system secondary to compression due to cysts.
Pathologic specimen of end-stage autosomal dominant polycystic kidney disease (ADPKD) with deformed lobulated kidneys.
Sonogram shows enlargement of both kidneys, diffuse increased echogenicity, and loss of corticomedullary differentiation. These findings are compatible with a diagnosis of autosomal recessive polycystic kidney disease (ARPKD).
Excretory urogram shows minimal bilateral tubular changes caused by a mild form of autosomal recessive polycystic kidney disease (ARPKD).
Excretory urogram shows enlarged kidneys with bilateral distortion of the collecting system (spider-legs configuration). These findings are compatible with a diagnosis of autosomal recessive polycystic kidney disease (ARPKD).
Excretory urogram shows the typical mottled (spongelike) contrast pattern in autosomal recessive polycystic kidney disease (ARPKD).
Excretory urogram shows the typical mottled (spongelike) contrast pattern in autosomal recessive polycystic kidney disease (ARPKD).
Excretory urogram shows the typical mottled (spongelike) contrast enhancement pattern in autosomal recessive polycystic kidney disease (ARPKD).
CT shows bilaterally smooth enlarged kidneys. These findings are compatible with a diagnosis of autosomal recessive polycystic kidney disease (ARPKD).
CT shows bilateral renal and liver cysts with enlarged kidneys and remaining renal cortex enhancement compatible with a diagnosis of autosomal dominant polycystic kidney disease (ADPKD).
T2-weighted MRI shows bilateral smooth enlarged kidneys with a hyperintense, linear, radial pattern in the cortex and medulla, compatible with autosomal recessive kidney disease.
T1- and T2-weighted MRIs demonstrating a superior left kidney cyst with high T1 and intermediary T2 signal compatible with a bleeding cyst in autosomal dominant polycystic kidney disease (ADPKD).
T1- and T2-weighted MRIs demonstrating bilateral renal and liver cysts compatible with autosomal dominant polycystic kidney disease (ADPKD).

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Author

Priya Verghese, MD, MPH Fellow in Pediatric Nephrology, Seattle Children's Hospital, University of Washington School of Medicine

Priya Verghese, MD, MPH is a member of the following medical societies: American Society of Pediatric Nephrology

Disclosure: Nothing to disclose.

Coauthor(s)

Jordan M Symons, MD Associate Professor of Pediatrics, University of Washington School of Medicine; Director of the Acute Dialysis Program, Seattle Children's Hospital

Jordan M Symons, MD is a member of the following medical societies: American Society of Nephrology, American Society of Pediatric Nephrology, Renal Physicians Association

Disclosure: Nothing to disclose.

José Luiz de Oliveira Schiavon, MD, PhD Radiologist, Diagnostic Imaging Schiavon Ltd

José Luiz de Oliveira Schiavon, MD, PhD is a member of the following medical societies: Radiological Society of North America

Disclosure: Nothing to disclose.

Henrique M Lederman, MD, PhD Professor of Radiology and Pediatric Radiology, Chief, Division of Diagnostic Imaging in Pediatrics, Federal University of Sao Paulo, Brazil

Henrique M Lederman, MD, PhD is a member of the following medical societies: Society for Pediatric Radiology

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Luther Travis, MD Professor Emeritus, Departments of Pediatrics, Nephrology and Diabetes, University of Texas Medical Branch School of Medicine

Luther Travis, MD is a member of the following medical societies: Alpha Omega Alpha, American Federation for Medical Research, International Society of Nephrology, Texas Pediatric Society

Disclosure: Nothing to disclose.

Chief Editor

Craig B Langman, MD Tenured Professor of Pediatrics, The First Isaac A Abt, MD, Professor of Kidney Diseases (Emeritus), Northwestern University, The Feinberg School of Medicine; Staff Nephrologist, The Ann and Robert H Lurie Children’s Hospital of Chicago

Craig B Langman, MD is a member of the following medical societies: American Academy of Pediatrics, American Federation for Clinical Research, American Society for Bone and Mineral Research, American Society of Nephrology, American Society of Pediatric Nephrology, Association of Clinical Scientists, Cochrane Collaboration, International Bone and Mineral Society, International Conferences on Calcium Regulating Hormones, International Pediatric Nephrology Association, International Society of Nephrology, International Society of Renal Nutrition and Metabolism, Midwest Society for Pediatric Research, Pediatric Academic Societies, ROCK (Research on Calculus Kinetics) Society, Society for Pediatric Research

Disclosure: Received income in an amount equal to or greater than $250 from: Alexion Pharmaceuticals; Horizon Pharmaceuticals); ; Dicerna Pharmaceuticals<br/>Incyte Pharmaceuticals; Eli Lilly for: Federation bio; Dicerna pharmaceuticals.

Additional Contributors

Richard Neiberger, MD, PhD Director of Pediatric Renal Stone Disease Clinic, Associate Professor, Department of Pediatrics, Division of Nephrology, University of Florida College of Medicine and Shands Hospital

Richard Neiberger, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Federation for Medical Research, American Medical Association, American Society of Nephrology, American Society of Pediatric Nephrology, Christian Medical and Dental Associations, Florida Medical Association, International Society for Peritoneal Dialysis, International Society of Nephrology, National Kidney Foundation, New York Academy of Sciences, Shock Society, Sigma Xi, The Scientific Research Honor Society, Southern Medical Association, Southern Society for Pediatric Research, Southwest Pediatric Nephrology Study Group

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous authors H Jorge Baluarte, MD, and Peter J Hurh, MD,to the development and writing of the source article.