Analbuminemia is an extremely rare congenital disease that denotes very low circulating levels of albumin (<1.0 g/L) [1] [2]. As one of the main plasma proteins, involved in oncotic pressure regulation and in the transport of numerous compounds throughout the body, albumin is a highly important molecule for human body functioning [1] [3]. However, virtually all patients develop only minimal symptoms as significant levels of lipoproteins (but also other classes of proteins) are secreted to compensate for albumin loss [1] [4]. Excessive hypercholesterolemia predisposes patients suffering from this rare condition to atherosclerosis and cardiovascular diseases [1] [4]. The main manifestations of analbuminemia are mild fatigue, edema around the ankles, and hypotension [1] [2]. Notable complications that have been described are osteoporosis, development of hypercoagulable disorders, infections of the respiratory tract, intrauterine growth retardation, and fetal death [5]. In fact, some authors claim that the very few cases of analbuminemia described in the literature are due to the underdiagnosis related to very early deaths from this condition [4].

• Turkish

  Laboratory data of the three analbuminemic patients Analyte Algerian patient Reference range * Turkish patient 1 Turkish patient 2 Reference range † Albumin (g/L) ‡ ND NR 14.4 18.0 39.7–49.4 Albumin (g/L) ¶ < 0.01 32.0–50.0 ND ND NR Total protein (g/L [synapse.koreamed.org]

  METHODS: We studied four apparently unrelated patients who had congenital analbuminemia: two of Amerindian and two of Turkish origin. [ncbi.nlm.nih.gov]

  The analbuminemic condition was diagnosed in a Turkish female infant on the basis of low albumin concentration (∼9.0 g/L). [moh-it.pure.elsevier.com]

• Respiratory Insufficiency

  Clinical examination was normal except for respiratory insufficiency which was managed by nasal continuous positive airway pressure for only four hours. [biochemia-medica.com]

The very rare occurrence of analbuminemia (only 50 cases have been reported in the literature and an incidence rate of < 1 in 1 million individuals was established) and the nonspecific, generally benign symptomatology must not mislead the physician from taking a detailed patient history and conducting a thorough physical examination [1]. A presumptive diagnosis can be made after laboratory studies that confirm profoundly low levels (< 1.0 g/L) of albumin in the serum but with normal liver function (coagulation panel and serum transaminases within physiological limits) and exclusion of albumin loss through the kidneys or the gastrointestinal tract [1] [2] [4] [6] [7]. Since certain molecules are usually bound to albumin at the time of testing (such as calcium and thyroxine), a true diagnosis may be delayed or missed for a significant period of time because of misleading laboratory results [1] [4] [8]. For this reason, more advanced studies, including molecular analysis to detect gene mutations located on chromosome 4, are necessary to solidify the diagnosis [1] [2] [9]. Because the disorder is transferred through an autosomal recessive pattern of inheritance [1] [2] [7], a family history might provide important clues as well, making it a vital constituent of the diagnostic workup.

Management and treatment CAA is a relatively benign and tolerable condition. Management aims at prophylaxis and treatment of the possible cardiovascular complications related to hypercholesterolemia and atherosclerosis. [orpha.net]

Based on the above favourable results, long-term treatment with atorvastatin 40 mg was prescribed. Table 1 Changes in serum lipid profile during treatment with atorvastatin at increasing dosages. [wjgnet.com]

Lists the latest drugs used for the treatment of cardiopulmonary disorders. Includes information on laboratory medicine and pediatrics to help you apply cardiopulmonary principles to practice. [books.google.ro]

and in some cases, due to treatment also. [dovemed.com]

(Outcomes/Resolutions) The prognosis of Congenital Analbuminemia is dependent upon the severity of the signs and symptoms and associated complications, if any The condition is most severe in the fetal, neonatal and infancy stages of an individual’s life [dovemed.com]

Prognosis: Excellent Ancillary treatments and support: Monitoring thyroid status Specialists and specialty centers: Endocrinologist, internist. [wohproject.org]

28741271 ) Kitajima Y...Eguchi Y 2018 16 Proteinuria, Hypoalbuminemia, and Chronic Lymphocytic Leukemia: An Unusual Trio. ( 29568782 ) Wung W...Jonas BA 2018 17 Pre-operative core muscle index in combination with hypoalbuminemia is associated with poor prognosis [malacards.org]

Biochemistry consult to review the results. 21 Analbuminemia Albumin (Dye-binding) : 10 – 17 g/L Albumin (electrophoresis): 2 – 3 g/L Albumin (Immunoassay) : 22 Consistent with: Analbuminemia A genetic lack of albumin What is analbuminemia and what is the prognosis [slideplayer.com]

HSA is either absent or present at very low levels ( Etiology The disorder is caused by homozygous or compound heterozygous mutations in the gene coding for HSA ( ALB ; 4q13.3). [orpha.net]

(Etiology) Congenital Analbuminemia is caused by mutations(s) in the ALB gene This gene codes for the human serum albumin or HAS The condition is inherited in an autosomal recessive manner Autosomal recessive inheritance: Autosomal recessive conditions [dovemed.com]

Summary Epidemiology Prevalence has been estimated at approximately 1 case per million population, with less than 50 cases being reported in the literature so far. The disorder occurs with no geographic, sex or ethnic predilection. [orpha.net]

Epidemiological studies have found that the mean birth weight of First Nations infants is higher compared with other ethnicities and, therefore, we may have underestimated the proportion of cases born SGA, because growth percentiles were determined using [mymedicine4all.com]

[…] anaerobic culture 嫌気培養 anaerobic infection 嫌気性感染 anaerobic threshold 無酸素性作業閾値 anal agenesis 肛門無形成 anal fissure 裂肛/痔裂 anal fistula 痔瘻 anal stage 肛門期 anal stenosis/stenosis of anus 肛門狭窄/肛門狭窄症 analbuminemia 無アルブミン血症 analgesia 痛覚脱出/痛覚消失 analgesic 鎮痛薬 analytic epidemiology [jpeds.or.jp]

It integrates key concepts of pathophysiology, clinical manifestations, diagnostic tests and laboratory information and findings with clinically important medical and surgical interventions and pharmacologic therapies — then applies the material to physical [books.google.ro]

Clinical aspects, genetics and pathophysiology of this disease are discussed. [ncbi.nlm.nih.gov]

1 Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genova 16148, Italy 2 Praxis Kreuzmatte, Kreuzstrasse 2, Postfach, 3052 Zollikofen, Switzerland 3 Department of Nephrology/Hypertension, Inselspital, Bern University Hospital, [mdpi.com]

Congenital Analbuminemia may not be preventable, since it is a genetic disorder. [dovemed.com]

Get optimal test results with guidance on error detection, correction, and prevention as well as cost-effective test selection. [books.google.ro]

Treatment aims to prevent heart and vascular problems and may include s tatins and periodic albumin infusions. [2] Last updated: 6/21/2016 This table lists symptoms that people with this disease may have. [rarediseases.info.nih.gov]

1. Del Ben M, Angelico F, Loffredo L, Violi F. Treatment of a patient with congenital analbuminemia with atorvastatin and albumin infusion. World J Clin Cases. 2013;1(1):44-48.
2. Campagna F, Fioretti F, Burattin M, et al. Congenital analbuminemia attributable to compound heterozygosity for novel mutations in the albumin gene. Clin Chem. 2005;51:1256–1258.
3. Boldt J. Use of albumin: an update. Br J Anaesth. 2010;104:276–284.
4. Dagnino M, Caridi G, Haenni U, et al. Molecular Diagnosis of Analbuminemia: A New Case Caused by a Nonsense Mutation in the Albumin Gene. Int J Mol Sci. 2011;12(11):7314-7322.
5. Wilkins TA, Midgley JE, Barron N. Comprehensive study of a thyroxin-analog-based assay for free thyroxin (“Amerlex FT4”). Clin Chem 1985;31:1644-1653.
6. Lyon AW, Meinert P, Bruce GA, Laxda VA, Salkie ML. Influence of methodology on the detection and diagnosis of congenital analbuminemia. Clin Chem. 1998;44:2365-2367
7. Koot BG, Houwen R, Pot DJ, Nauta J. Congenital analbuminaemia: biochemical and clinical implications. A case report and literature review. Eur J Pediatr. 2004;163:664-667
8. Stockigt JR, Stevens V, White EL, Barlow JW. “Unbound analog” radioimmunoassays for free thyroxin measure the albumin-bound fraction. Clin Chem 1983;29:1408-1410
9. Minghetti PP, Ruffner DE, Kuang WJ, et al. Molecular structure of the human albumin gene is revealed by nucleotide sequence within q11-22 of chromosome 4. J Biol Chem. 1986;261:6747–6757.