Rabson-Mendenhall syndrome: Medullary sponge kidney, a new component

Andrew M. Harris, Bryan Hall, Vesna M. Kriss, John L. Fowlkes, Stefan G. Kiessling

Research output: Contribution to journalArticlepeer-review

13 Scopus citations

Abstract

Rabson-Mendenhall syndrome is a rare genetic disorder characterized by severe insulin resistance, extreme hyperinsulinemia, postprandial hyperglycemia, growth retardation, and dysmorphisms. Enlargement of the kidneys and nephrocalcinosis have been described previously. We report a 10-year-old boy who presented with gross hematuria, unilateral hydronephrosis, and the initial diagnosis of bilateral extensive medullary nephrocalcinosis. Medullary sponge kidney (MSK) was included in the differential diagnosis given the ultrasound findings. Further evaluation by intravenous pyelogram confirmed the suspected bilateral MSK. Given the patient's history of hydronephrosis due to an obstructing renal stone and MSK, urine calcium excretion was assessed and found to be markedly increased at 9.5 mg/kg per day. To our knowledge, this is the first report of Rabson-Mendenhall syndrome and an association with MSK. We recommend evaluation for nephrocalcinosis, MSK, and hypercalciuria in all children diagnosed with Rabson-Mendenhall syndrome.

Original languageEnglish
Pages (from-to)2141-2144
Number of pages4
JournalPediatric Nephrology
Volume22
Issue number12
DOIs
StatePublished - Dec 2007

Keywords

  • Hematuria
  • Hypercalciuria
  • Medullary sponge kidney
  • Rabson-Mendenhall syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Nephrology

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