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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Abbreviations
- Nephronophthisis (NPHP)
- Autosomal dominant tubulointerstitial kidney disease (ADTKD)
Synonyms
- NPHP complex
- Medullary cystic kidney disease, types 1 and 2
- Familial juvenile NPHP
- Cystic disease of renal medulla
Definitions
- Group of related diseases with progressive renal tubular atrophy, secondary glomerulosclerosis, and medullary cyst formation
IMAGING
General Features
Imaging Recommendations
CT Findings
MR Findings
Ultrasonographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Treatment
Selected References
- Whang G et al: Ultrasound, computed tomography, and magnetic resonance imaging in a patient with medullary cystic kidney disease. Ultrasound Q. 34(4):288-91, 2018
- Srivastava S et al: Many genes-one disease? Genetics of nephronophthisis (NPHP) and NPHP-associated disorders. Front Pediatr. 5:287, 2017
- Katabathina VS et al: Adult renal cystic disease: a genetic, biological, and developmental primer. Radiographics. 30(6):1509-23, 2010
- Hildebrandt F et al: Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol. 20(1):23-35, 2009
- Simms RJ et al: Nephronophthisis. Eur J Hum Genet. 17(4):406-16, 2009
- Hamiwka LA et al: Outcomes of kidney transplantation in children with nephronophthisis: an analysis of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS) Registry. Pediatr Transplant. 12(8):878-82, 2008
- Rohatgi R: Clinical manifestations of hereditary cystic kidney disease. Front Biosci. 13:4175-97, 2008
- Tsukamoto T et al: Nephronophthisis complicated with hepatic fibrosis: an autopsy case with rupture of the splenic artery after renal transplantation. Clin Exp Nephrol. 12(1):82-8, 2008
- Delous M et al: The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 39(7):875-81, 2007
- Hildebrandt F et al: Nephronophthisis-associated ciliopathies. J Am Soc Nephrol. 18(6):1855-71, 2007
- O'Toole JF et al: Mutational analysis in 119 families with nephronophthisis. Pediatr Nephrol. 22(3):366-70, 2007
- Badano JL et al: The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet. 7:125-48, 2006
- Bollée G et al: Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults. Nephrol Dial Transplant. 21(9):2660-3, 2006
- Caridi G et al: Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association. Kidney Int. 70(7):1342-7, 2006
- Saunier S et al: Nephronophthisis. Curr Opin Genet Dev. 15(3):324-31, 2005
- Meier P et al: Imaging medullary cystic kidney disease with magnetic resonance. Am J Kidney Dis. 42(1):E5-10, 2003
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Abbreviations
- Nephronophthisis (NPHP)
- Autosomal dominant tubulointerstitial kidney disease (ADTKD)
Synonyms
- NPHP complex
- Medullary cystic kidney disease, types 1 and 2
- Familial juvenile NPHP
- Cystic disease of renal medulla
Definitions
- Group of related diseases with progressive renal tubular atrophy, secondary glomerulosclerosis, and medullary cyst formation
IMAGING
General Features
Imaging Recommendations
CT Findings
MR Findings
Ultrasonographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Treatment
Selected References
- Whang G et al: Ultrasound, computed tomography, and magnetic resonance imaging in a patient with medullary cystic kidney disease. Ultrasound Q. 34(4):288-91, 2018
- Srivastava S et al: Many genes-one disease? Genetics of nephronophthisis (NPHP) and NPHP-associated disorders. Front Pediatr. 5:287, 2017
- Katabathina VS et al: Adult renal cystic disease: a genetic, biological, and developmental primer. Radiographics. 30(6):1509-23, 2010
- Hildebrandt F et al: Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol. 20(1):23-35, 2009
- Simms RJ et al: Nephronophthisis. Eur J Hum Genet. 17(4):406-16, 2009
- Hamiwka LA et al: Outcomes of kidney transplantation in children with nephronophthisis: an analysis of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS) Registry. Pediatr Transplant. 12(8):878-82, 2008
- Rohatgi R: Clinical manifestations of hereditary cystic kidney disease. Front Biosci. 13:4175-97, 2008
- Tsukamoto T et al: Nephronophthisis complicated with hepatic fibrosis: an autopsy case with rupture of the splenic artery after renal transplantation. Clin Exp Nephrol. 12(1):82-8, 2008
- Delous M et al: The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 39(7):875-81, 2007
- Hildebrandt F et al: Nephronophthisis-associated ciliopathies. J Am Soc Nephrol. 18(6):1855-71, 2007
- O'Toole JF et al: Mutational analysis in 119 families with nephronophthisis. Pediatr Nephrol. 22(3):366-70, 2007
- Badano JL et al: The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet. 7:125-48, 2006
- Bollée G et al: Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults. Nephrol Dial Transplant. 21(9):2660-3, 2006
- Caridi G et al: Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association. Kidney Int. 70(7):1342-7, 2006
- Saunier S et al: Nephronophthisis. Curr Opin Genet Dev. 15(3):324-31, 2005
- Meier P et al: Imaging medullary cystic kidney disease with magnetic resonance. Am J Kidney Dis. 42(1):E5-10, 2003
