Congenital analbuminemia with acute glomerulonephritis: a diagnostic challenge

Abstract

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.

Molecular Diagnosis of Analbuminemia: A New Case Caused by a Nonsense Mutation in the Albumin Gene

“…In our patient the absence of severe symptoms and the presence of a significant, though low, amount of albumin probably contributed to delay the clinical diagnosis of analbuminemia or congenital hypoalbuminemia until the age of 45. The major pitfall in the diagnosis of analbuminemia is that the commonly used assays for albumin quantification in serum (based on dye-binding techniques) suffer from poor accuracy in presence of low albumin level, usually showing an overestimation of its real amount [15,16]. Serum protein electrophoresis is widely available and usually is more reliable with low serum albumin measurements, revealing the near complete absence of an albumin band (0–3 g/L) [15,16].…”

“…The major pitfall in the diagnosis of analbuminemia is that the commonly used assays for albumin quantification in serum (based on dye-binding techniques) suffer from poor accuracy in presence of low albumin level, usually showing an overestimation of its real amount [15,16]. Serum protein electrophoresis is widely available and usually is more reliable with low serum albumin measurements, revealing the near complete absence of an albumin band (0–3 g/L) [15,16]. Immunoassays of serum albumin are likely the most accurate and often produces near-zero albumin results that are consistent with the diagnosis of analbuminemia [15,16].…”

“…Serum protein electrophoresis is widely available and usually is more reliable with low serum albumin measurements, revealing the near complete absence of an albumin band (0–3 g/L) [15,16]. Immunoassays of serum albumin are likely the most accurate and often produces near-zero albumin results that are consistent with the diagnosis of analbuminemia [15,16]. However, even the most reliable immunochemical method, invariably shows the presence of non-zero concentrations of albumin [3].…”

Acute glomerulonephritis in the 21st century

“…Вместе с тем при обследовании детей -коренных жителей Египта, страдающих ОПСГН, уда-лось выявить, что вероятность его развития достоверно возрастает при носительстве аллеля 03011 гена главного комплекса гистосовместимости НLA-DRB1 [16]. Очевид-но, что поиск генетических детерминант ОПСГН необхо-димо продолжать, и с этой точки зрения интерес пред-ставляют, в частности, наблюдения развития его при дру-гих наследственных заболеваниях, например семейной анальбуминемии [17], хотя многие из подобных ассоциа-ций заведомо носят лишь спорадический характер.…”

Pregnancy in a patient with congenital analbuminaemia

“…In the absence of albumin, the human body compensates through the synthesis of immunoglobulins and other serum proteins including globulins, transferrin, coagulation factors and apolipoprotein-B 2 13 14. Patients subsequently have hypercholesterolaemia, with elevated plasma low-density lipoprotein (LDL) cholesterol levels and normal or reduced high-density lipoprotein cholesterol levels.…”