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Medullary cystic kidney disease - Overview

Alternative Names

Familial juvenile nephrophthisis; Senior-Loken syndrome

Definition of Medullary cystic kidney disease:

Medullary cystic kidney disease (MCKD) is a hereditary disorder in which cysts in the center of each kidney cause the kidneys to gradually lose their ability to work.

Causes, incidence, and risk factors:

Medullary cystic kidney disease (MCKD) is very similar to the childhood disease familial juvenile nephronophthisis (NPH). Both lead to scarring of the kidney and formation of fluid-filled cavities (cysts) in the deeper parts of the kidney.

In these conditions, the kidneys don't concentrate the urine enough, leading to excessive urine production and loss of sodium and other chemical changes in the blood and urine.

MCKD occurs in older patients and is inherited in an autosomal dominant pattern. NPH occurs in young children and is usually due to autosomal recessive inheritance.

NPH may be associated with nonkidney features (like eye problems), while MCKD is limited to the kidneys.

Kidney anatomy

Kidney cyst with gallstones, CT scan

Kidney - blood and urine flow

Reviewed last on: 11/30/2009
David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; Herbert Y. Lin, MD, PHD, Nephrologist, Massachusetts General Hospital; Associate Professor of Medicine, Harvard Medical School. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Arnaout MA. Cystic kidney disease. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 128.

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