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

Chong, Yih Harng; Taylor, B. J.; Wheeler, Benjamin J

doi:10.1186/2251-6581-12-7

Cited by 7 publications

(4 citation statements)

References 13 publications

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“…5 Leprechaunism, or Donohue syndrome, is characterized by growth delays in utero and in the postnatal period and carries a poorer prognosis with most patients dying prior to their first birthday. 8 Type A insulin resistance syndrome primarily affects females, and symptoms present just prior to puberty. 5 Due to insulin receptor mutation, a prominent feature of RMS is extreme insulin resistance defined as patients requiring >200 U of insulin per day or >3 U/kg/d.…”

Section: Discussionmentioning

confidence: 99%

Treatment of Diabetic Ketoacidosis With Intravenous U-500 Insulin in a Patient With Rabson-Mendenhall Syndrome: A Case Report

Moore

Bailey

Flannery

et al. 2016

Journal of Pharmacy Practice

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Rabson-Mendenhall syndrome is a rare genetic disorder resulting from mutations in the insulin receptor and is associated with high degrees of insulin resistance. These patients are prone to complications secondary to their hyperglycemia including diabetic ketoacidosis (DKA). We report the case of a 19-year-old male with Rabson-Mendenhall syndrome presenting with DKA who required doses of up to 500 U/h (10.6 U/kg/h) of insulin. The patient's insulin infusion was originally compounded with U-100 regular insulin, although to minimize volume, the product was compounded with U-500 insulin. The DKA eventually resolved requiring infusion rates ranging from 400 to 500 U/h. Although numerous opportunities for medication errors exist with the use of U-500 insulin, this case outlines the safe use of concentrated intravenous insulin when clinically indicated for patients requiring extremely high doses of insulin to control blood glucose.

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Section: Discussionmentioning

confidence: 99%

Treatment of Diabetic Ketoacidosis With Intravenous U-500 Insulin in a Patient With Rabson-Mendenhall Syndrome: A Case Report

Moore

Bailey

Flannery

et al. 2016

Journal of Pharmacy Practice

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“…At least part of the beneficial effect of AAT in recovery of functional islets is likely related to protection of β‐cells and insulin from extracellular trypsin and other acinar‐cell proteases 29, 30. However, experimental models of diabetes also suggest that AAT protects against β‐cell loss induced by macrophage invasion, immunologic products such as TNF‐α,20, 21 and the oxidative stress that accompanies inflammation, hyperglycemia, and/or metabolic poisons 10, 31, 32. Beta cells seem particularly sensitive to poisons that bind to glucose transporters and/or cause mitochondrial damage, as evidenced by their destruction at concentrations of STZ that do not damage other cell types or organs 32.…”

Section: Effects Of Aat In Cell and Solid Organ Transplantationmentioning

confidence: 99%

“…However, experimental models of diabetes also suggest that AAT protects against β‐cell loss induced by macrophage invasion, immunologic products such as TNF‐α,20, 21 and the oxidative stress that accompanies inflammation, hyperglycemia, and/or metabolic poisons 10, 31, 32. Beta cells seem particularly sensitive to poisons that bind to glucose transporters and/or cause mitochondrial damage, as evidenced by their destruction at concentrations of STZ that do not damage other cell types or organs 32. A complete discussion of AAT in diabetes is beyond the scope of this review, but data on β‐cell survival in NOD mice suggest that AAT exerts similar beneficial activities during islet recovery and transplantation.…”

Section: Effects Of Aat In Cell and Solid Organ Transplantationmentioning

confidence: 99%

Alpha-1-antitrypsin in cell and organ transplantation

Berger

Liu

Uknis

et al. 2018

American Journal of Transplantation

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Limited availability of donor organs and risk of ischemia‐reperfusion injury (IRI) seriously restrict organ transplantation. Therapeutics that can prevent or reduce IRI could potentially increase the number of transplants by increasing use of borderline organs and decreasing discards. Alpha‐1 antitrypsin (AAT) is an acute phase reactant and serine protease inhibitor that limits inflammatory tissue damage. Purified plasma–derived AAT has been well tolerated in more than 30 years of use to prevent emphysema in AAT‐deficient individuals. Accumulating evidence suggests that AAT has additional anti‐inflammatory and tissue‐protective effects including improving mitochondrial membrane stability, inhibiting apoptosis, inhibiting nuclear factor kappa B activation, modulating pro‐ vs anti‐inflammatory cytokine balance, and promoting immunologic tolerance. Cell culture and animal studies have shown that AAT limits tissue injury and promotes cell and tissue survival. AAT can promote tolerance in animal models by downregulating early inflammation and favoring induction and stabilization of regulatory T cells. The diverse intracellular and immune‐modulatory effects of AAT and its well‐established tolerability in patients suggest that it might be useful in transplantation. Clinical trials, planned and/or in progress, should help determine whether the promise of the animal and cellular studies will be fulfilled by improving outcomes in human organ transplantation.

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“…In cases for whom insulin therapy is initiated, patients require very high insulin doses and therefore, in most cases, U-500 insulin is used for treatment [ 12 , 14 , 66 , 67 ]. In patients treated with U-500 insulin, continuous subcutaneous insulin infusion (CSII) is a viable option [ 12 ].…”

Section: Overview Of Current Knowledge On the Use Of Rhigf-i In Simentioning

confidence: 99%

Mecasermin in Insulin Receptor-Related Severe Insulin Resistance Syndromes: Case Report and Review of the Literature

Plamper

Gohlke

Schreiner

et al. 2018

IJMS

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Mutations in the insulin receptor (INSR) gene underlie rare severe INSR-related insulin resistance syndromes (SIR), including insulin resistance type A, Rabson–Mendenhall syndrome and Donohue syndrome (DS), with DS representing the most severe form of insulin resistance. Treatment of these cases is challenging, with the majority of DS patients dying within the first two years of life. rhIGF-I (mecasermin) has been reported to improve metabolic control and increase lifespan in DS patients. A case report and literature review were completed. We present a case involving a male patient with DS, harbouring a homozygous mutation in the INSR gene (c.591delC). Initial rhIGF-I application via BID (twice daily) injection was unsatisfactory, but continuous subcutaneous rhIGF-I infusion via an insulin pump improved weight development and diabetes control (HbA1c decreased from 10 to 7.6%). However, our patient died at 22 months of age during the course of a respiratory infection in in Libya. Currently available data in the literature comprising more than 30 treated patients worldwide seem to support a trial of rhIGF-I in SIR. rhIGF-I represents a treatment option for challenging SIR cases, but careful consideration of the therapeutic benefits and the burden of the disease is warranted. Continuous application via pump might be advantageous compared to single injections.

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

Cited by 7 publications

References 13 publications

Treatment of Diabetic Ketoacidosis With Intravenous U-500 Insulin in a Patient With Rabson-Mendenhall Syndrome: A Case Report

Treatment of Diabetic Ketoacidosis With Intravenous U-500 Insulin in a Patient With Rabson-Mendenhall Syndrome: A Case Report

Alpha-1-antitrypsin in cell and organ transplantation

Mecasermin in Insulin Receptor-Related Severe Insulin Resistance Syndromes: Case Report and Review of the Literature

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