GLUT1-deficient cryohydrocytosis may present with haemolytic anaemia, pseudohyperkalaemia and neuro-pathology. [endocrine-abstracts.org]

In OHS, de novo mutations are common but, once present, the mutations are dominantly transmitted. [yumpu.com]

In a 'recessive', like cystic fibrosis, both genes have to be abnormal for the condition to be present. [ucl.ac.uk]

Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. [impact.ref.ac.uk]

Hereditary cryohydrocytosis, type 2 (CHC 2) presents similar to OHS, except that the leak dramatically increases close to 0 degrees C. In addition, hematological manifestations are associated with neurological disorders. [ncbi.nlm.nih.gov]

• Falling

  Thus, the general group of dominantly inherited conditions with which we are concerned here fall under the general title `hereditary stomatocytoses and allied disorders.' [the-medical-dictionary.com]

  Stewart identified that a crucial feature in diagnosis is the dependence of the increased sodium-potassium permeability as temperature falls. [impact.ref.ac.uk]

  Others There are other families that do not fall neatly into any of these classifications. That described by Oski is one such (Oski et al, 1969). Also, Jarvis et al 2001. [ucl.ac.uk]

• Movement Disorder

  This causes the characteristic neurological symptoms (seizures, mental retardation, and movement disorders). The hemolysis and cataracts appear to be due to the altered cation permeability of the mutant channel. [cancertherapyadvisor.com]

  Chapter 27 covers qualitative hemoglobin disorders, and Chapter 28 covers quantitative hemoglobin disorders. [doctorlib.info]

• Nausea

  Clinical hemolysis can begin abruptly within hours or occur gradually 1 to 3 days after the drug is taken. 61, 63 Typical symptoms include chills, fever, headache, nausea, and back pain. 59 A rapid drop in hemoglobin may occur, and the anemia can range [doctorlib.info]

• Hepatosplenomegaly

  Described syndromes including the following: CHC with mental retardation, seizures, and hepatosplenomegaly (stomatin deficiency linked to SLC4A1 ) Nonleaky stomatocytosis with hypercholesterolemia, xanthomas, splenomegaly, and macrothrombocytopenia (severe [emedicine.medscape.com]

  FAMILIAL DEFICIENCY OF HIGH-DENSITY LIPOPROTEINS Severe deficiency or absence of high-density lipoproteins leads to accumulation of cholesteryl esters in many tissues, leading to clinical findings of large orange tonsils and hepatosplenomegaly. [medtextfree.wordpress.com]

  The reported patients also had massive hepatosplenomegaly. Unlike the other forms of cryohydrocytosis, this type is also stomatin deficient. The primary defect is in a glucose/ascorbic acid transporter, Glut1 (see section on “Pathophysiology”). [cancertherapyadvisor.com]

The impact of the correct diagnosis is to enable effective treatment of the condition. [impact.ref.ac.uk]

Anticoagulant treatment should be given, often on a long term basis. [ucl.ac.uk]

Mentzer WC http://www.uptodate.com/contents/hereditary-spherocytosis-clinical-features-diagnosis-and-treatment UpToDate, Wolters Kluwer Health - 2012-05-22 2 more in this section... [doximity.com]

Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines. [orpha.net]

Hyperkalaemia continued, requiring occasional treatment with Salbutamol, Insulin or Fludrocortisone. Adrenal pathology was excluded. Investigation suggested normokalaemia when samples were assayed immediately and therefore ‘pseudo-hyperkalaemia’. [endocrine-abstracts.org]

This formusually soccurs in children between the ages of 4 and 10 years and in most cases has a good prognosis. [centogene.com]

THERAPY, COURSE, AND PROGNOSIS The majority of hydrocytosis patients suffer from significant lifelong anemia. [medtextfree.wordpress.com]

Although the fluid can cause trouble and much concern, it resolves spontaneously after delivery and carries a good prognosis. [ucl.ac.uk]

What should you tell the patient and the family about prognosis? The natural histories of hereditary stomatocytosis and hereditary xerocytosis are not well understood. [cancertherapyadvisor.com]

Acanthocytes have long, rigid projections and become entrapped and hemolyzed in the spleen, which results in a rapidly progressive anemia of moderate severity, splenomegaly, and jaundice. 4, 13 Spur cell anemia in end-stage liver disease has a poor prognosis [doctorlib.info]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

The etiology of these disorders of cation permeability is unknown. [medtextfree.wordpress.com]

Education & Training Certifications & Licensure CA State Medical License 1966 - 2019 American Board of Pediatrics Pediatrics American Board of Pediatrics Pediatric Hematology-Oncology Clinical Trials The Epidemiology of Priapism (Sickle Cell Disease) [doximity.com]

Hereditary spherocytosis Epidemiology § 1:5000 births (1:2000 if subclinical forms included) § Northern Europeans / Americans principally § Also Algeria, Tunisia, Egypt, Japan, N India, Brazil § Rare in black population Pathology § 7 Important proteins [ihaematology.com]

The protein defect results from missense mutations in the SLC4A1 gene. [10] Epidemiology Frequency International These hereditary syndromes are extremely rare, and accurate data concerning their prevalence are lacking; however, overall they are thought [emedicine.medscape.com]

The primary defect is in the anion transporter, band 3 (see section on “Pathophysiology”). [cancertherapyadvisor.com]

Several physiological and pathophysiological functions of RBC-derived microvesicles have been described. [frontiersin.org]

Describe the causes and pathophysiology of hereditary and acquired conditions characterized by acanthocytosis. Describe the cause, pathophysiology, clinical manifestations, laboratory findings, and treatment for paroxysmal nocturnal hemoglobinuria. [doctorlib.info]

Pathophysiology of abnormal cell volume in human red cells. In: F Lang, ed. Cell volume regulation. Basel: Karger, 1998: 120-239. 14 Lock SP, Sephton Smith R, Hardisty RM. [the-medical-dictionary.com]

[…] to SLC4A1 ) Nonleaky stomatocytosis with hypercholesterolemia, xanthomas, splenomegaly, and macrothrombocytopenia (severe phytosterolemia linked to ABCG5 or ABCG8 ) DHSt with transient perinatal edema, including neonatal ascites (linked to PIEZO1 ) Pathophysiology [emedicine.medscape.com]

The mutation both prevents glucose transport and causes a cation leak. A ketogenic diet improved seizures and reduced abnormal movements, as in the more common GLUT1-deficiency syndrome. [endocrine-abstracts.org]

Prevention of drug-induced disease is possible by choosing alternate drugs when possible. [doctorlib.info]

This is a clinically benign condition but it must be distinguished from true hyperkalemia to prevent inadvertent treatment of patients and potential harm. [cancertherapyadvisor.com]

Delay time of hemoglobin s polymerization prevents most cells from sickling in vivo. [frontiersin.org]