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Table. Molecular Genetic Features of the Nephronophthisis–Medullary Cystic Kidney Disease Complex

Table. Molecular Genetic Features of the Nephronophthisis–Medullary Cystic Kidney Disease Complex

Disease	Inheritance	Chromosome	Gene, Protein	Genetic Defect
NPH1	Autosomal recessive	2q13	NPHP1, nephrocystin-1	Homozygous deletion, heterozygous deletion
NPH2	Autosomal recessive	9q31	NPHP2/INV, inversin	Recessive mutations
NPH3	Autosomal recessive	3q22	NPHP3, nephrocystin-3	Recessive mutations
NPH4	Autosomal recessive	1p36	NPHP4, nephroretinin	Point mutations
NPH5	Autosomal recessive	3q21	NPHP5, nephrocystin-5	Truncations
NPH6	Autosomal recessive	12q21	NPHP6, nephrocystin-6	Truncations
NPH7	Autosomal recessive	16p	NPHP7, nephrocystin-7	Unknown
NPH8	Autosomal recessive	16p	NPHP8, nephrocystin-8	Truncations, missense
NPH9	Autosomal recessive	17q11	NPHP9, nephrocystin-9	Missense
NPH11	Autosomal recessive	8q22.1	NPHP11, nephrocystin-11	Missense
NPH1L	Autosomal recessive	22q13	Nephrocystin-1L	Deletion
MCKD1	Autosomal dominant	1q21	MUC1, mucin1	Missense
MCKD2	Autosomal dominant	16p12*	UMOD, Uromodulin	Missense
*Co-localizes with familial juvenile hyperuricemic nephropathy.

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Author

Prasad Devarajan, MD, FAAP Louise M Williams Endowed Chair in Pediatrics, Professor of Pediatrics and Developmental Biology, Director of Nephrology and Hypertension, Director of the Nephrology Fellowship Program, Medical Director of the Kidney Stone Center, Co-Director of the Institutional Office of Pediatric Clinical Fellowships, Director of Clinical Nephrology Laboratory, CEO of Dialysis Unit, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine

Prasad Devarajan, MD, FAAP is a member of the following medical societies: American Heart Association, American Society of Nephrology, American Society of Pediatric Nephrology, National Kidney Foundation, Society for Pediatric Research

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Consultant for Reata, Dicerna, Alnylam<br/>Received none from Coinventor on patents submitted for the use of NGAL as a biomarker of kidney injury for none.

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.

Frederick J Kaskel, MD, PhD Director of the Division and Training Program in Pediatric Nephrology, Vice Chair, Department of Pediatrics, Montefiore Medical Center and Albert Einstein School of Medicine

Frederick J Kaskel, MD, PhD is a member of the following medical societies: American Association for the Advancement of Science, Eastern Society for Pediatric Research, Renal Physicians Association, American Academy of Pediatrics, American Pediatric Society, American Physiological Society, American Society of Nephrology, American Society of Pediatric Nephrology, American Society of Transplantation, Federation of American Societies for Experimental Biology, International Society of Nephrology, National Kidney Foundation, New York Academy of Sciences, Sigma Xi, The Scientific Research Honor Society, Society for Pediatric Research

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

Deogracias Pena, MD Medical Director of Dialysis, Medical Director of Pediatric Nephrology and Transplantation, Cook Children's Medical Center; Clinical Associate Professor, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Medical Director of Pediatric Nephrology, Florida Hospital for Children

Deogracias Pena, MD is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, American Society of Pediatric Nephrology

Disclosure: Nothing to disclose.

Medullary Cystic Disease Differential Diagnoses

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