Symptoma

Familial Isolated Hypoparathyroidism

Familial Isolated Hypoparathyroidism due to Impaired PTH Secretion

The proposita presented with neonatal hypocalcemic seizures. Serum calcium was 1.5 mmol/L (normal, 2.0-2.5); phosphate was 3.6 mmol/L (normal, 0.9-1.5). She was born to consanguineous parents. [ncbi.nlm.nih.gov]

Clinical Characteristics Ocular Features: Lens opacities may be present. Systemic Features: The major signs and symptoms result from hypocalcemia. Neuromuscular irritability and various paresthesias may be present. [disorders.eyes.arizona.edu]

Leading experts from Latin America, Africa, Near and Middle East, Indian Subcontinent, Far East, Oceania and Australia present their expert insights into specific conditions, as well as progress and challenges in the development of the specialty. [books.google.com]

  • Pulmonary Disorder

    Jordan Prutkin, Joel Moss Remedica, 2002 - 257 من الصفحات 0 مراجعات Our understanding of the relationship between genetics and pulmonary disorders is still evolving. [books.google.com]

  • Brittle Hair

    Alopecia, abnormal dentition and coarse brittle hair may be present. Cognitive deficits and personality disorders are often a feature. Brain imaging may show calcification of the basal ganglia. [disorders.eyes.arizona.edu]

    Chronically hypoparathyroid patients manifest with muscle cramps, pseudopapilledema, extrapyramidal signs, mental retardation and personality disturbances, as well as cataracts, dry rough skin, coarse brittle hair, alopecia and abnormal dentition(l). [indianpediatrics.net]

  • Severe Osteoporosis

    The 2002 FDA approval of the recombinant form of parathyroid hormone 1-34 (Forteo , Teriparatide) for the treatment of severe osteoporosis has allowed this therapy to be used off-label for treatment of hypoparathyroidism both in the US and in Europe. [rarediseases.org]

  • Long Arm

    X-linked recessive hypoparathyroidism is caused by mutations of a gene located on the long arm (q) of the X chromosome (Xq26-q27). This gene plays a critical role in the development of the parathyroid glands. [rarediseases.org]

  • Suggestibility

    We found that in none of the 23 affected individuals was there absence of the parathyroid hormone gene or abnormal restriction patterns to suggest recognizable deletions, insertions, or rearrangements. [ncbi.nlm.nih.gov]

    These results indicate that four members of the family were affected, suggesting autosomal dominant inheritance. Brain CT revealed calcification of basal ganglia in the proband, her father and a younger sister, but not in her younger brother. [jstage.jst.go.jp]

    The dental findings in this patient are suggestive of reduced bone reparative capacity due to low serum Ca levels. [jisponline.com]

  • Abnormal Thyroid Function Test

    THYROID FUNCTION TEST 47 THYROID DISORDERS OF INFANCY 462 P A RT IV CALCIUM AND BONE METABOLISM 473 MORPHOLOGY OF THE PARATHYROID 51 PARATHYROID HORMONE 497 PHYSIOLOGY OF CALCIUM 52 PARATHYROID HORMONERELATED 512 CLINICAL APPLICATION OF BONE MINERAL [books.google.com]

  • Hyperreninemia

    […] very few cases, severe activating mutations of the CaSR cause a phenotype resembling the salt-wasting Bartter syndrome (also referred to as Bartter syndrome subtype V), characterized by hypocalcemia, hypomagnesemia, hypokalemia, metabolic alkalosis, hyperreninemia [iofbonehealth.org]

  • Hyperaldosteronemia

    […] severe activating mutations of the CaSR cause a phenotype resembling the salt-wasting Bartter syndrome (also referred to as Bartter syndrome subtype V), characterized by hypocalcemia, hypomagnesemia, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronemia [iofbonehealth.org]

Management and treatment Management consists of symptomatic treatment with supplementary calcium and vitamin D. The documents contained in this web site are presented for information purposes only. [orpha.net]

Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

Standard Therapies Treatment Treatment is aimed at raising calcium levels high enough to provide symptom relief without causing abnormally high levels of calcium excretion in the urine (hypercalciuria). [rarediseases.org]

Prognosis The regular monitoring required to ensure appropriate calcium levels means that the prognosis is challenging for many people. This may improve if synthetic PTH becomes widely available. [patient.info]

Etiology FIH may be due to an activating mutation of the calcium-sensing receptor ( CASR ) gene. This is the most common cause of genetic hypoparathyroidism and is transmitted as an autosomal dominant trait. [orpha.net]

As the patient had a second episode of hypocalcemia despite calcium supplements, other etiologies for this were sought for. [indianpediatrics.net]

This interesting case highlights the importance of hypoparathyroidism as an etiology of recurrent seizures. A 17-year old female presented to us with a history of generalized tonic clonic seizures of 20 min duration. [jnsbm.org]

It opens by addressing in detail the anatomy and physiology of the parathyroids and describing the epidemiology and clinical presentation of hypoparathyroidism. [books.google.com]

Genatlas disease for PTH Gene hypoparathyroidism,familial,isolated,dominant and recessive types Relevant External Links for PTH Genetic Association Database (GAD) PTH Human Genome Epidemiology (HuGE) Navigator PTH Tumor Gene Database (TGDB): PTH Atlas [genecards.org]

"Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research". J. Bone Miner. Res. 26 (10): 2317–37. doi : 10.1002/jbmr.483. PMC 3405491. PMID 21812031. [en.wikipedia.org]

Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research. J Bone Miner Res. 2011 Oct;26(10):2317-37. Al-Azem H, Khan AA. Hypoparathyroidism. [shifrinmd.com]

Epidemiology This is a rare disorder. Found equally in males and females. Age of onset depends on the aetiology. Aetiology Hypoparathyroidism may be transient, congenital/genetically inherited or acquired. [patient.info]

Mutation of the signal sequence constitutes a novel pathophysiologic mechanism in man, and further study may yield important insights both into this form of hormone deficiency and into the role of signal sequences in human physiology. [ncbi.nlm.nih.gov]

[…] biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice 231 Acute and chronic liver disease 250 Glucose metabolism and the pathophysiology [books.google.com]

"Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research". J. Bone Miner. Res. 26 (10): 2317–37. doi : 10.1002/jbmr.483. PMC 3405491. PMID 21812031. [en.wikipedia.org]

Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research. J Bone Miner Res. 2011 Oct;26(10):2317-37. Al-Azem H, Khan AA. Hypoparathyroidism. [shifrinmd.com]

Function PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion. Stimulates [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis in osteoblastic cells. [abcam.com]

This hormone elevates blood Ca2 levels by dissolving the salts in bone and preventing their renal excretion. It is produced in the parathyroid gland as an 84 amino acid single chain polypeptide. [pathnsitu.com]

[provided by RefSeq, Jul 2008] UniProt Comments for PTH PTH: PTH elevates calcium level by dissolving the salts in bone and preventing their renal excretion. [mybiosource.com]

[…] sudden cardiac death - guidance (IPG603) Source: National Institute for Health and Care Excellence - NICE - 20 December 2017 Evidence-based recommendations on subcutaneous implantable cardioverter defibrillator insertion for preventing sudden cardiac [evidence.nhs.uk]

Precautions are taken to prevent seizures or larynx spasms. The heart is monitored for abnormal rhythms until the person is stable. [en.wikipedia.org]