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Medullary sponge kidney

David S Goldfarb, MD, FACP, FASN
Section Editor
Stanley Goldfarb, MD
Deputy Editor
Albert Q Lam, MD


Medullary sponge kidney is a congenital disorder characterized by malformation of the terminal collecting ducts in the pericalyceal region of the renal pyramids [1-3]. This collecting duct dilatation, or ectasia, is associated with the formation of both small (microscopic) and large medullary cysts that are often diffuse but do not involve the cortex.

Medullary sponge kidney (originally called Lenarduzzi-Cacchi-Ricci disease) is usually asymptomatic. The diagnosis is commonly made as an incidental finding during an imaging test performed for a different indication. Although considered benign, the associated complications of medullary sponge kidney (eg, nephrolithiasis and urinary tract infections) may rarely lead to chronic kidney disease and even renal failure [4].


The changes seen in medullary sponge kidney are thought to reflect a developmental abnormality, though the underlying defect is not fully understood. The association of medullary sponge kidney with malformations affecting the kidney such as hemihypertrophy and Beckwith-Wiedemann syndrome has led to speculation that the disorder results from a disruption of the interface between the ureteral-bud and the metanephric blastema during embryonic development [5].

Evidence for genetic transmission of medullary sponge kidney is limited. Some patients with medullary sponge kidney have mutations in the gene for glial cell-derived neurotrophic factor (GDNF), a protein that is pivotal in renal development [6]. One study suggested that mutations in GDNF may lead to osteogenic differentiation in renal papillary cells, resulting in medullary sponge kidney [7]. In this study, a patient heterozygous for a GDNF mutation and medullary sponge kidney underwent nephrectomy for a different clinical indication; cells from the papilla of the resected kidney were cultured and, after several months, developed mineralization. The investigators subsequently showed that similar mineralization occurred in an immortalized human kidney cell line when the GDNF gene was knocked down.

Although occasional families with medullary sponge kidney appear to show autosomal dominant inheritance [1,3], a positive family history is often absent. Despite this, family clustering of medullary sponge kidney may be common. In a study of 50 patients with documented medullary sponge kidney, 27 had affected immediate-family members identified with imaging (either contrast-enhanced computed tomography [CT] or ultrasound) or, among deceased family members, a suggestive clinical history [8,9]. Not all affected family members had a phenotype that was identical to that of the index cases. The responsible genotypes for this clustering are uncertain and were not due to mutations in GDNF.

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Literature review current through: Nov 2017. | This topic last updated: Dec 13, 2017.
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