A boy with congenital analbuminemia and steroid-sensitive idiopathic nephrotic syndrome: an experiment of nature

Neuhaus, Thomas J.; Stallmach, Thomas; Genewein, Agnes

doi:10.1007/s00431-007-0620-y

Cited by 7 publications

(7 citation statements)

References 19 publications

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“…Existing literature provides little information on the effect of fetal CAA in pregnancy, with reports including SGA, placental edema or infarction, and frequent miscarriage (1,(13)(14)(15)(16). The present case series supports reports of SGA infants.…”

Section: Discussionsupporting

confidence: 74%

Perinatal and childhood morbidity and mortality in congenital analbuminemia

Toye

Lemire

Baerg

2012

Paediatrics and Child Health

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Section: Discussionsupporting

confidence: 74%

Perinatal and childhood morbidity and mortality in congenital analbuminemia

Toye

Lemire

Baerg

2012

Paediatrics and Child Health

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“…The most remarkable metabolic alterations in congenital analbuminaemic humans and rats are high levels of plasma lipids and lipoproteins (Kikuchi et al 1983; Joles et al 1993; Catanozzi et al 1994; Newstead et al 2004), but a myriad of comorbidities have been described in cases of human analbuminaemia and in NARs (Kallee, 1996; Koot et al 2004; Newstead et al 2004; Neuhaus et al 2008; Figueira et al 2011). Many endocrine and metabolic alterations have been shown in NARs, including hypothyroidism, hyperparathyroidism, low adiposity and body mass, and plasma free fatty acid (FFA) deficiency (Ando et al 1980; Kikuchi et al 1983; Takahashi et al 1984; Yamamoto et al 1992; Inaba et al 2000).…”

mentioning

confidence: 99%

Enhanced insulin secretion and glucose tolerance in rats exhibiting low plasma free fatty acid levels and hypertriglyceridaemia due to congenital albumin deficiency

Figueira

Ribeiro

Ignácio-Souza

et al. 2012

Experimental Physiology

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Congenitally analbuminaemic individuals and rats (NARs) exhibit several metabolic abnormalities, including hypertriglyceridaemia and plasma free fatty acid deficiency. Our aim was to study glucose homeostasis and insulin secretion in NARs. Plasma concentrations of lipids, glucose and insulin and secretion of insulin from the pancreatic islets were measured in female NARs and control animals (Sprague-Dawley rats; SDRs). Glucose homeostasis tests were also performed. Plasma glucose levels were similar between NARs and SDRs, irrespective of feeding status. However, fed insulinaemia was ∼37% higher (P ≤ 0.05) in NARs than in SDRs. The NARs displayed a markedly increased glucose tolerance, i.e. the integrated glycaemic response was one-third that of the control animals. Enhanced glucose tolerance was associated with threefold higher insulinaemia at peak glycaemia after a glucose load than in the control animals. Similar peripheral insulin sensitivity was observed between groups. Isolated pancreatic islets from NARs secreted significantly more insulin than islets from SDRs in response to a wide range of glucose concentrations (2.8-33.3 mm). Despite having similar liver glycogen contents in the fully fed state, NARs had ∼40% (P ≤ 0.05) lower glycogen contents than SDRs after 6 h fasting. The injection of a gluconeogenic substrate, pyruvate, elicited a faster rise in glycaemia in NARs compared with SDRs. Overall, NARs displayed enhanced glucose tolerance, insulin secretion and gluconeogenic flux. The higher glucose tolerance in NARs compared with SDRs is attributed to enhanced islet responsiveness to secretagogues, while peripheral insulin sensitivity seems not to be involved in this alteration. We propose that the enhanced glucose metabolism is a chronic compensatory adaptation to decreased free fatty acid availability in NARs.

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“…The absence of albumin and an increase in other protein fractions are seen in patient 1. The small peak observed near the expected location of albumin probably reflects other proteins, such as alpha-1 acid glycoprotein and transthyretin has been previously described in a child diagnosed with congenital analbuminemia at the age of 9 months who developed steroid-responsive nephrotic syndrome at the age of 5 years [8].…”

Section: Discussionmentioning

confidence: 80%

Congenital analbuminemia with acute glomerulonephritis: a diagnostic challenge

et al. 2009

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Congenital analbuminemia is a rare autosomal recessive disease in which albumin is not synthesized. Patients with this disorder generally have minimal symptoms despite complete absence of the most abundant serum protein. We report a family in which the proband presented with acute glomerulonephritis and was found to have underlying congenital analbuminemia. Consequently, the patient's two older sisters were diagnosed with the same condition. Sequencing of the human serum albumin gene was performed, and a homozygous mutation in exon 3 was found in all three patients. Together with these three patients of Arab ethnicity, this mutation, known as Kayseri, is the most frequently described mutation in congenital analbuminemia. This article discusses clinical features and diagnostic challenges of this disorder, particularly in this case, where concomitant renal disease was present.

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A boy with congenital analbuminemia and steroid-sensitive idiopathic nephrotic syndrome: an experiment of nature

Abstract: A boy with congenital analbuminemia and steroid-sensitive idiopathic nephrotic syndrome: an experiment of nature

Cited by 7 publications

References 19 publications

Perinatal and childhood morbidity and mortality in congenital analbuminemia

Perinatal and childhood morbidity and mortality in congenital analbuminemia

Enhanced insulin secretion and glucose tolerance in rats exhibiting low plasma free fatty acid levels and hypertriglyceridaemia due to congenital albumin deficiency

Congenital analbuminemia with acute glomerulonephritis: a diagnostic challenge

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