Neutropenia in congenital nephrotic syndrome of the Finnish type: role of urinary ceruloplasmin loss

Ulinski, Tim; Aoun, Bilal; Toubiana, Julie; Vitkevič, Renata; Bensman, A; Donadieu, Jean

doi:10.1182/blood-2009-02-204099

Cited by 16 publications

(5 citation statements)

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“…We reported on a patient with a typical clinical course of CNS, genetically confirmed as Finnish type with a novel homozygotic mutation in gene NPHS1 . We observed not only massive proteinuria, severe hypoproteinemia, loss of immunoglobulins, and leakage of hormones but also severe neutropenia, which was attributed to low plasma copper and ceruloplasmin levels because the neutrophil level normalized after oral supplementation of copper, as already described ( 3 ).…”

Section: Discussionsupporting

confidence: 82%

A novel mutation of congenital nephrotic syndrome in a Slovenian child eventually receiving a renal transplant

Golob¹,

Nosan²,

Bertok³

et al. 2021

Croat Med J

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Section: Discussionsupporting

confidence: 82%

A novel mutation of congenital nephrotic syndrome in a Slovenian child eventually receiving a renal transplant

Golob¹,

Nosan²,

Bertok³

et al. 2021

Croat Med J

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“…Copper administration suffices to correct the deficiency and to restore a normal neutrophil count [136]. …”

Section: Congenital Neutropenia - Classification and Etiologymentioning

confidence: 99%

Congenital neutropenia: diagnosis, molecular bases and patient management

Donadieu

Fenneteau

Beaupain

et al. 2011

Orphanet J Rare Dis

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184

191

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The term congenital neutropenia encompasses a family of neutropenic disorders, both permanent and intermittent, severe (<0.5 G/l) or mild (between 0.5-1.5 G/l), which may also affect other organ systems such as the pancreas, central nervous system, heart, muscle and skin. Neutropenia can lead to life-threatening pyogenic infections, acute gingivostomatitis and chronic parodontal disease, and each successive infection may leave permanent sequelae. The risk of infection is roughly inversely proportional to the circulating polymorphonuclear neutrophil count and is particularly high at counts below 0.2 G/l.When neutropenia is detected, an attempt should be made to establish the etiology, distinguishing between acquired forms (the most frequent, including post viral neutropenia and auto immune neutropenia) and congenital forms that may either be isolated or part of a complex genetic disease.Except for ethnic neutropenia, which is a frequent but mild congenital form, probably with polygenic inheritance, all other forms of congenital neutropenia are extremely rare and have monogenic inheritance, which may be X-linked or autosomal, recessive or dominant.About half the forms of congenital neutropenia with no extra-hematopoetic manifestations and normal adaptive immunity are due to neutrophil elastase (ELANE) mutations. Some patients have severe permanent neutropenia and frequent infections early in life, while others have mild intermittent neutropenia.Congenital neutropenia may also be associated with a wide range of organ dysfunctions, as for example in Shwachman-Diamond syndrome (associated with pancreatic insufficiency) and glycogen storage disease type Ib (associated with a glycogen storage syndrome). So far, the molecular bases of 12 neutropenic disorders have been identified.Treatment of severe chronic neutropenia should focus on prevention of infections. It includes antimicrobial prophylaxis, generally with trimethoprim-sulfamethoxazole, and also granulocyte-colony-stimulating factor (G-CSF). G-CSF has considerably improved these patients' outlook. It is usually well tolerated, but potential adverse effects include thrombocytopenia, glomerulonephritis, vasculitis and osteoporosis. Long-term treatment with G-CSF, especially at high doses, augments the spontaneous risk of leukemia in patients with congenital neutropenia.

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confidence: 99%

Iron excess treatable by copper supplementation in acquired aceruloplasminemia: a new form of secondary human iron overload?

Videt-Gibou

Belliard

Bardou-Jacquet

et al. 2009

Blood

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EGCG, by inhibiting both CYP3A4 and P-glicoprotein activities, increased the bioavailability of the calcium channel blockers verapamil and diltiazem, 8,9 thus raising the risk for patients to undergo atrioventricular block. The inhibition of CYP3A4 activity by green tea extracts could increase the plasma concentrations of midazolam 4 and, therefore, amplify the risk of prolonged sedation. On the contrary, the up-regulation of CYP1A2 could result in reduced bioavailability of the antipsychotic drug clozapine. 6 Furthermore, both green and black tea extracts inhibited the activity of the isoforms 1A1 and 1A3 of sulfotransferases, 10,11 a family of enzymes involved in the metabolism of drugs such as methyldopa or ␤2-adrenoceptor agonists, thus increasing their plasma concentrations and side effects. With regard to the plasma concentrations of EGCG in people drinking green tea, it is interesting to note that the values found by Chow and colleagues and quoted by Shah et al 2 could be underestimated. In fact, Chow et al measured plasma EGCG after a single administration of green tea to healthy volunteers. Considering that catechins are metabolized by sulfotransferases and the latter is inhibited by the former, 10,11 catechin plasma concentration could significantly increase in people consuming a large amount of green tea.Finally, the rationale for use of green tea as an adjuvant in cancer therapy has been contradicted by recent clinical studies that demonstrated the inconsistent effect of green tea in preventing the occurrence of esophageal, stomach, liver, colorectal, and breast cancers. 12,13 In our opinion, it is a matter of public health to refrain from providing people with confusing information about the unproven therapeutic potential of tea derivatives without consistent information on their toxicity.

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Neutropenia in congenital nephrotic syndrome of the Finnish type: role of urinary ceruloplasmin loss

Cited by 16 publications

References 5 publications

A novel mutation of congenital nephrotic syndrome in a Slovenian child eventually receiving a renal transplant

A novel mutation of congenital nephrotic syndrome in a Slovenian child eventually receiving a renal transplant

Congenital neutropenia: diagnosis, molecular bases and patient management

Iron excess treatable by copper supplementation in acquired aceruloplasminemia: a new form of secondary human iron overload?

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