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, Yuki; Sato, Takashi; Takagi, Masaki; Watanabe, Toru; Nagayama, Yoshihisa; Hasegawa, Tomonobu; Abe, Tokinari

doi:10.1515/jpem-2011-0473

Cited by 11 publications

(9 citation statements)

References 3 publications

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“…Abe et al reported a case of a Japanese boy with RMS and radiological finding of MSK and nephrocalcinosis, with yet unknown aetiology to link these conditions [7]. …”

Section: Discussionmentioning

confidence: 99%

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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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“…Abe et al reported a case of a Japanese boy with RMS and radiological finding of MSK and nephrocalcinosis, with yet unknown aetiology to link these conditions [7]. …”

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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“…Two more confounding factors were hirsutism, a common finding of RMS, 4-6 which was caused by the administration of progesterone, and the Bartter-like phenotype described in patients with syndromes of severe insulin resistance such as RMS and Donohue syndrome. 5,8,9 The latter was maybe the outcome of long-term factitious furosemide dispensation that can result in hypercalciuria, hypokalemia, and metabolic alkalosis after prolonged treatment. Finally, the infective episodes observed in our case (a common cause of death in patients with RMS and Donohue syndrome is infection) have to be attributed to the intravenous injections by the mother deliberately performed without antiseptic care.…”

Section: Figurementioning

confidence: 99%

Case Report: When an Induced Illness Looks Like a Rare Disease

et al. 2015

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The recognition of fabricated illness (FI) in a child represents a diagnostic challenge. The suspicion of FI often arises from the discrepancy between laboratory tests and clinical history. For instance, (unnecessary) insulin injections by caregivers has been widely described as a common cause of factitious hypoglycemia that may be inferred from discrepancies between plasma insulin and c-peptide. However, contemporary administration of insulin with an insulin secretagogue (glyburide), and of additional drugs, can make the diagnostic pathway problematic. We report the case of a child 4 years and 11 months old, admitted for alternance of hypo-and hyperglycemia associated with hirsutism, hypokalemia, nephrocalcinosis, and neurodevelopmental delay. All these features were compatible with RabsonMendenhall syndrome, a rare disorder of severe insulin resistance linked to mutations of insulin receptor. At admission, plasma insulin levels were high during hypoglycemic episodes, but c-peptide was repeatedly in the normal range. The genetic analysis of insulin receptor was negative. The story of previous hospital admissions, inconsistency between insulin and c-peptide values, and association between hypoglycemic episodes in the child with the presence of the mother, raised the suspicion of FI. This hypothesis was confirmed by a video recording that revealed the administration by the mother of multiple drugs (insulin, glyburide, progesterone, and furosemide) that mimicked most of the features of Rabson-Mendenhall syndrome, including hirsutism and hypoglycemia with coincident, inappropriately normal c-peptide values due to the administration of the insulin secretagogue. Our case indicates that inconsistency among consecutive diagnostic tests should be regarded as a clue of FI.

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“…Patients with impaired INSR function provide a unique opportunity to study the role of this receptor in human kidney. So far, only case reports and small case series exist in the literature, reporting an association with medullary sponge kidney [ 12 , 13 ], and a Bartter-like phenotype [ 14 ]. In order to get a better understanding, we performed a medical note review of the renal features of INSR dysfunction in the largest series of patients reported so far.…”

Section: Introductionmentioning

confidence: 99%

Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations

et al. 2014

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Background/Aims: Donohue and Rabson-Mendenhall syndrome are rare autosomal recessive disorders caused by mutations in the insulin receptor gene, INSR. Phenotypic features include extreme insulin resistance, linear growth retardation, paucity of fat and muscle, and soft tissue overgrowth. The insulin receptor is also expressed in the kidney, where animal data suggest it plays a role in glomerular function and blood pressure (BP) regulation, yet such a role in the human kidney is untested. Patients with biallelic INSR mutations provide a rare opportunity to ascertain its role in man. Methods: Retrospective review of patients with INSR mutations. Data for BP, renal imaging, plasma creatinine and electrolyte levels, as well as urine protein, albumin and calcium excretion were sought from the treating clinicians. Results: From 33 patients with INSR mutations, data were available for 17 patients. Plasma creatinine was low (mean ± SD: 25 ± 9 μmol/l) and mean plasma electrolyte concentrations were within the normal range (n = 13). Systolic BP ranged between the 18th and 91st percentile for age, sex, height and weight (n = 9; mean ± SD: 49 ± 24). Twenty-four-hour urinary calcium data were available from 10 patients and revealed hypercalciuria in all (mean ± SD: 0.32 ± 0.17 mmol/kg/day; normal <0.1). Nephrocalcinosis was present in all patients (n = 17). Urinary albumin excretion (n = 7) ranged from 4.3-122.5 μg/min (mean ± SD: 32.4 ± 41.0 μg/min; normal <20). Conclusions: INSR dysfunction is associated with hypercalciuria and nephrocalcinosis. No other consistent abnormality of renal function was noted. Normotension and stable glomerular function with only moderate proteinuria is in contrast to genetically modified mice who have elevated BP and progressive diabetic nephropathy.

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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

Cited by 11 publications

References 3 publications

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

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

Case Report: When an Induced Illness Looks Like a Rare Disease

Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations

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