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

Harris, Andrew; Hall, Bryan D.; Kriss, Vesna Martich; Fowlkes, John L.; Kiessling, Stefan G.

doi:10.1007/s00467-007-0600-5

Cited by 17 publications

(9 citation statements)

References 23 publications

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“…To our knowledge, our case is the second report of RMS complicated by MSK. Prior to Harris ' s case report, there were some reports of RMS with renal abnormalities that included nephrocalcinosis or renal enlargement (2) . Although the pathogenesis of these renal abnormalities was not clarifi ed, the symptoms indicated the possibility of MSK, a relatively common disease characterized by malformation of the terminal collecting ducts in the pericalyceal region of the renal pyramids.…”

Section: Discussionmentioning

confidence: 98%

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A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney

Abe

Sato

Takagi

et al. 2012

Journal of Pediatric Endocrinology and Metabolism

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Rabson-Mendenhall syndrome (RMS) is a genetic disorder characterized by severe insulin resistance and somatic characteristics. Recombinant insulin-like growth factor 1 (r-IGF-1) is used to treat RMS, as the IGF-1 and insulin receptors share homology. However, the effect of r-IGF-1 varies in patients and it is diffi cult to manage metabolic status appropriately in r-IGF-1 resistant cases. We report a Japanese boy with RMS who showed resistance to r-IGF-1 therapy and a novel mutation in the insulin receptor in the tyrosine kinase domain. Mutations in this region disturb tyrosine kinase catalytic activity in IGF-1 receptors as a result of dominant negative effects. We consider this mutation to be the cause of resistance to r-IGF-1. The patient also exhibited radiographical features of medullary sponge kidney and had severe nephrocalcinosis and hypokalemia, indicating Bartter syndrome. However, analysis revealed no mutations in the responsible genes and the etiology of the renal abnormalities therefore remains unknown.

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Section: Discussionmentioning

confidence: 98%

“…Renal abnormalities have been reported in some cases of RMS (2) . These abnormalities include calcifi cation, urinary stones, hematuria, and enlarged kidneys, although their etiology remains unclear.…”

Section: Introductionmentioning

confidence: 96%

A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney

Abe

Sato

Takagi

et al. 2012

Journal of Pediatric Endocrinology and Metabolism

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“…The first such report is described in Harris et al, concerning a 10 year old boy with an incidental finding of MSK during investigation for symptomatic nephrocalcinosis. The main phenotypic difference between this case and ours is the severity of insulin resistance, as the boy required only rosiglitazone and metformin, in contrast to our patient, who needed maximal doses of metformin and very high doses of insulin [6]. …”

Section: Discussionmentioning

confidence: 99%

“…Two cases have been published of associated Medullary Sponge Kidney (MSK) [6,7]. Uncertainty remains as to whether these are independent of, or characteristic features, of RMS.…”

Section: Introductionmentioning

confidence: 99%

Renal manifestations of severe Rabson-Mendenhall syndrome: a case report

Chong

Taylor

Wheeler

2013

J Diabetes Metab Disord

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IntroductionRabson-Mendenhall Syndrome (RMS) is a rare form of severe insulin resistance due to a recessive mutation of the insulin receptor. Associated manifestations include facial dysmorphism, skin abnormalities, and renal anomalies.Case presentationWe report a case of a 13 year old African female with RMS, severe insulin resistance, and a cluster of renal pathologies including nephromegaly, nephrolithiasis, hydronephrosis, and medullary sponge kidney.ConclusionThis is the first case of severe insulin resistance associated with the collection of renal conditions described. We postulate that renal conditions present in RMS may be under recognised, and recommend screening for the above conditions. This case adds to the scarce body of literature of associated renal manifestations with RMS, including medullary sponge kidney, across the spectrum of insulin resistance.

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“…Other manifestatations include leprechaunism [78], dental dysplasia, abnormal physical development, precocious puberty, pineal hyperplasia with melatonin secretion changes [22,49,68]. Moreover, these symptoms are associated with postnatal growth retardation, motor skills difficulties, speech and hearing problems, fast growing nails, hypertrichosis and other defects such as renal abnormalities [50]. Due to this extremely severe form of insulin resistance and, in turn, diabetic ketoacidosis, such patients die in the first or second decade of their life, before age of 16 [152].…”

Section: Insulin Receptor Defect As a Cause Of Rare Syndromesmentioning

confidence: 99%

Insulin Receptor and its Relationship with Different Forms of Insulin Resistance

Rojek¹,

Niedziela²

2010

Advances in Cell Biology

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Summary:Insulin plays an important role in maintaining the whole organism's homeostasis. The presence of insulin receptors in all vertebrates and invertebrates cells reflects the diversity of regulatory processes in which this hormone is involved. Furthermore, many different factors may influence the level of insulin receptor expression. These factors include e.g. the sole insulin or stage of development. Mutations in the receptor may lead to the development of insulin resistance. These mutations differ in the level of severity and are frequently associated with diabetes mellitus, hypertension, cardiovascular disorders, heart failure, metabolic syndrome and infertility in women. More than 50 mutations in insulin receptor gene have already been characterized. These mutations are associated with rare forms of insulin resistance like leprechaunism, insulin resistance type A or Rabson-Mendenhall syndrome. Molecular analysis of insulin receptor gene may lead to a better understanding of molecular mechanisms underlying various types of insulin resistance and help to develop more efficient treatment.

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

Cited by 17 publications

References 23 publications

A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney

A case of Rabson-Mendenhall syndrome with a novel mutation in the tyrosine kinase domain of the insulin receptor gene complicated by medullary sponge kidney

Renal manifestations of severe Rabson-Mendenhall syndrome: a case report

Insulin Receptor and its Relationship with Different Forms of Insulin Resistance

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