Deepika vegiraju: Created page with "Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism. The c..."

2020-07-14T07:06:33Z

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Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe [[hypercalcemia]] (> 3.5 mM) from birth and associated with major [[hyperparathyroidism]].
The clinical manifestations are early (with onset occurring during the first days of life) and severe, including respiratory distress due to [[hypotonia]] and rib cage deformities, bone under mineralization, and multiple fractures, all of which influence the immediate vital prognosis.

== '''Cause''' ==
NSHPT is associated in most cases with homozygous inactivating mutations in the '''CASR gene''', localized to 3q21.1. This gene encodes the '''calcium-sensing receptor''' (CaSR), a member of the subfamily of G protein-coupled transmembrane receptors. CaSR plays a key role in the regulation of phosphocalcic metabolism by controlling [[parathyroid hormone]] (PTH) secretion and calcium urinary excretion in response to variations in serum calcium levels.

== '''Inheritance''' ==
NSHPT represents the [[homozygous]] form of FHH and is transmitted as an [[autosomal recessive]] trait. However, [[sporadic]] forms of NSHPT occur and are associated with a heterozygous de novo mutation in the CASR gene. To date, there have been no reports of severe neonatal hyperparathyroidism with homozygous mutations in those with FHH type 2 or 3 (see these terms) but their molecular identification is still too recent to make any definite conclusions.

== '''Symptoms''' ==
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
* Abnormal calcium-phosphate regulating hormone level
* Abnormality of the [[metaphysis]](Abnormality of the wide portion of a long bone)
* Abnormality of the [[thyroid gland]](Thyroid abnormality)
* Aminoaciduria(High urine amino acid levels)
* Hepatomegaly(Enlarged liver)
* Muscular hypotonia(Low or weak muscle tone)
* Narrow chest(Low chest circumference)
* Recurrent fractures(Increased fracture rate)
* Short stature(Decreased body height)
* Splenomegaly(Increased spleen size)

== '''Diagnostic methods''' ==
Biologically, children present with extremely high [[serum calcium]] and serum [[PTH]] levels and a relative [[hypocalciuria]], but in some cases they present with a markedly elevated [[calciuria]].

=== '''Differential diagnosis''' ===
Familial hypocalciuric hypercalcemia (FHH; see this term) is a differential diagnosis. Hypercalcemia is usually milder and PTH levels are lower in FHH than in NSHPT and FHH is asymptomatic in most cases.

=== '''Antenatal diagnosis''' ===
Prenatal diagnosis might be proposed to parents if they are both suffering from FHH.

== '''Treatment''' ==
The control of hypercalcemia is often obtained through progressive therapeutic intervention involving the use of [[bisphosphonates]], [[dialysis]] or even [[calcimimetics]]. If this is unsuccessful, a total [[parathyroidectomy]] is required. After parathyroidectomy, life-long treatment with [[1-alpha hydoxylated vitamin D]] is required.
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition.
* '''[[Cinacalce]]t '''(Brand name: Sensipar®)Treatment of [[hypercalcemia]] in adult patients with primary [[hyperparathyroidism]] for whom [[parathyroidectomy]] would be indicated on the basis of serum calcium levels, but who are unable to undergo parathyroidectomy.

== '''Prognosis''' ==
Patients can die from complications of hypercalcemia during the neonatal period from respiratory distress and dramatic hypercalcemia.
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Neonatal severe hyperparathyroidism - Revision history

Deepika vegiraju: Created page with "Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism. The c..."