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Neonatal Severe Primary Hyperparathyroidism

NSHPT


Presentation

  • We present the case of an infant who underwent total parathyroidectomy at age 4 months in which intraoperative parathyroid hormone monitoring provided immediate confirmation of surgical cure.[ncbi.nlm.nih.gov]
  • Four cases of neonatal severe primary hyperparathyroidism occurred in three families; familial hypocalciuric hypercalcemia was present in each kindred.[ncbi.nlm.nih.gov]
  • Patient Presentation A male infant was referred to our institution for parathyroidectomy at 3.5 months of age.[pediatrics.aappublications.org]
  • He is Executive Advisory Editor of Bone Research (2013-present).[books.google.de]
  • Abstract Four cases of neonatal severe primary hyperparathyroidism occurred in three families; familial hypocalciuric hypercalcemia was present in each kindred.[nejm.org]
Turkish
  • We describe a study of a boy with neonatal severe primary hyperparathyroidism (NSPHP) and alkaptonuria born to related parents of Turkish origin.[ncbi.nlm.nih.gov]
Severe Clinical Course
  • Paternal and de novo mutations tend to have a less severe clinical course due to the influence of maternal-fetal calcium regulations.[genedx.com]
Neonatal Jaundice
  • The updated coverage includes new information on fetal assessment, survival of premature infants, and perinatal asphyxia and new guidelines on neonatal jaundice.[books.google.de]
Hydrops Fetalis
  • Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care[books.google.de]

Workup

  • […] severe primary hyperparathyroidism Establishing a diagnosis of autosomal dominant hypoparathyroidism As part of the workup of idiopathic hypoparathyroidism As part of the workup of patients with Bartter syndrome Clinical Information Discusses physiology[mayomedicallaboratories.com]
  • […] hyperparathyroidism ADMH - Autosomal dominant mild hyperparathyroidism or familial hypercalcemia with hypercalcuria FHH - Familial hypocalciuric hypercalcemia NSHPT - Neonatal severe hyperparathyroidism Imaging Several imaging studies are useful in the surgical workup[medicine.uiowa.edu]
  • Imaging of abnormal parathyroid glands is a critical part of the preoperative workup. Its role is to identify the position of enlarged glands in the neck or mediastinum and to differentiate between single and multiple gland disease.[karger.com]

Treatment

  • Intensive medical treatment was unsuccessful and he was cured after total parathyroidectomy had been performed. It seems that total parathyroidectomy is the treatment of choice in cases of neonatal PHPT.[theijcp.org]
  • Total parathyroidectomy is the treatment of choice, so the surgeon must identify all the parathyroid tissue, including supernumerary and ectopic glands.[ncbi.nlm.nih.gov]
  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.de]
  • By contrast, more common heterozygous mutations are associated with a benign variant termed familial hypocalciuric hypercalcemia, which generally requires no specific treatment. 1 – 3 Total parathyroidectomy is the standard treatment of NSPH 1 – 14 and[pediatrics.aappublications.org]
  • Surgery is the treatment of choice. While waiting for surgery, bisphosphonates offer a good alternative to deal with hypercalcemia.[pediatrics.aappublications.org]

Prognosis

  • NSHPT can be fatal if partial or total parathyroidectomy is not carried out within the first several weeks of life, with a good short-term prognosis after surgery and rapid involution of bony abnormalities.[iofbonehealth.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

  • […] levels of parathyroid hormone, hypotonia and respiratory distress. 1 About 50 neonates with NPHP have been reported and it has been suggested as a possible contributor to a small number of cases of the Sudden infant death syndrome (SIDS) as well. 2 The etiology[jpma.org.pk]
  • […] controls matched for age, gender, and ethnic group) Neuromuscular symptoms: documented proximal weakness, atrophy, hyper-reflexia, and agait distubance Hereditary Hyperparathyroidism: Although cases of sporadic hyperparathyroidism are idiopathic and the etiology[medicine.uiowa.edu]

Epidemiology

  • 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]
  • Harmonization of pulsed field gel electrophoresis protocols for epidemiological typing of strains of methicillin-resistant Staphylococcus aureus: a single approach developed by consensus in 10 European laboratories and its application for tracing the[degruyter.com]
  • Adami S, Marcocci C, Gatti D (2002) Epidemiology of primary hyperparathyroidism in Europe. J Bone Miner Res 17 Suppl 2: N18-23. Khan A, Bilezikian J (2000) Primary hyperparathyroidism: pathophysiology and impact on bone. CMAJ 163: 184-187.[omicsonline.org]
  • In adults it is a common condition and much is known about its epidemiology, clinical course, accuracy of imaging, and outcomes of surgical treatment.[karger.com]
Sex distribution
Age distribution

Pathophysiology

  • […] 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.de]
  • On the basis of the genetic and pathophysiologic data reported here, we speculate that homozygosity for the 'FHH-gene' is the cause of the life-threatening manifestation of NSPHP, whereas heterozygosity for the same gene leads to FHH, by comparison a[ncbi.nlm.nih.gov]
  • Colorado State University Hypertextbook, Pathophysiology of the Endocrine System [On-line information]. Available online at . Parathyroid Hormone, Intact Molecule. ARUP's Guide to Clinical Laboratory Testing (CLT) [On-line test information].[labtestsonline.it]
  • […] severe primary hyperparathyroidism Establishing a diagnosis of autosomal dominant hypoparathyroidism As part of the workup of idiopathic hypoparathyroidism As part of the workup of patients with Bartter syndrome Clinical Information Discusses physiology, pathophysiology[mayomedicallaboratories.com]

Prevention

  • Usually a parathyroidectomy is necessary within the first few weeks of life to prevent death. Of note, there have been milder, transient cases reported with a lack of family history of FHH or secondary hyperparathyroidism.[genedx.com]
  • Kumar A, Ralston SH (1996) Bisphosphonates prevent the hungry bone syndrome. Nephron 74: 729.[omicsonline.org]
  • Prevention Close monitoring of patients undergoing thyroid or neck surgery, radiotherapy to the neck or chest and chemotherapy treatment for symptoms and signs of hypocalcaemia.[patient.info]
  • Obviously in cases of malignancy important to not violate capsule of gland but also in benign disease to prevent parathyromatosis (multiple nodules of hyperfunctioning parathyroid tissue scattered through the neck and mediastinum).[medicine.uiowa.edu]
  • Surgery for PHPT The aims of surgery in children with PHPT are immediate and permanent cure of abnormally high levels of calcium and PTH, alleviation of the symptoms and prevention or reversal of end organ damage.[karger.com]

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