characterization
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Idiopathic infantile hypercalcaemia is a rare state characterized by failure to thrive, anorexia, vomiting, constipation and psychomotor retardation. We report a case of an infant with this syndrome.
- MeSH
- hyperkalcemie * diagnóza metabolismus MeSH
- kojenec MeSH
- lidé MeSH
- vápník metabolismus MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- anglický abstrakt MeSH
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- vápník MeSH
Primary hyperparathyroidism (PHPT) has been increasingly diagnosed incidentally in its asymptomatic form owing to calcium screening tests. This form of PHPT represents 80% in developed countries. Although PHPT patients are asym-ptomatic, target organ (bone and kidney) involvement is frequently observed. Mild PHPT is associated with a reduction of bone mineral densityand, moreover, with increased risk of vertebral fractures. The extent of a patient evaluation and indications for parathyroidectomy are based on expert guidelines from 2014. Normocalcemic variant of PHPT has been recently recognized, possibly with higher prevalence in general population than the hypercalcemic form of PHPT. Normal but with respect to hypercalcemia inadequately high parathormon levels characterize normohormonal PHPT. If a hereditary form of PHPT is suspected, genetic testing is recommended. Although there are new clinical forms of PHPT, parathyroidectomy still represents the only curative approach to PHPT followed by substantial osteoprotective effect.Key words: asymptomatic form - normocalcemic form - normohormonal form - parathyroidectomy - primary hyperparathyroidism - recent guidelines for the management PHPT.
Idiopathic infantile hypercalcaemia (IIH) is a mineral metabolism disorder of unknown origin. It is characterized by high levels of serum calcium resulting in parathyroid hormone (PTH) suppression, muscle hypotonia, thirst, anorexia, failure to thrive, psychomotor retardation, constipation, nephrocalcinosis. Treatment consists of low calcium diet, glucocorticoids, furosemide. We present a case of 5-month old girl with IIH, where total calcaemia peaked to 4.25 mmol/l. The leading symptoms were failure to thrive, constipation, muscle hypotonia, dehydration. Rehydration, low calcium diet, and application of glucocorticoids and furosemide resulted in a drop in calcaemia to normal values and an overall clinical improvement within two weeks. Williams-Beuren syndrome (WBS), benign familial hypocalciuric hypercalcaemia (FHH), neonatal severe primary hyperparathyroidism (NSHPT), Jansen's metaphyseal dysplasia, primary hyperparathyroidism, vitamin D intoxication, granulomatous diseases, thyroid disease, malignancy were all ruled out. In conclusion, infants with failure to thrive should have their serum levels of minerals, especially, calcium, checked. In case of hypercalcaemia, treatment with corticosteroids and furosemide should be initiated, together with further diagnostic steps in order to elucidate its origin.
- MeSH
- diferenciální diagnóza MeSH
- hyperkalcemie diagnóza terapie MeSH
- kojenec MeSH
- lidé MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Familial hypocalciuric hypercalcemia (FHH) type 1, caused by a heterozygous inactivating mutation of the gene encoding the calcium-sensing receptor (CaSR), is characterized by mild to moderate hypercalcemia, hypocalciuria and inappropriately normal or elevated parathyroid hormone (PTH). FHH must be differentiated from primary hyperparathyroidism (PHPT) because parathyroidectomy is ineffective in the former. Herein, we report a 39-year-old male patient with a 13-year history of asymptomatic PTH-dependent hypercalcemia (mean calcium of 2.88 mmol/l; reference range 2.15-2.55 mmol/l) and calcium-to-creatinine clearance ratio (Ca/Cr) ranging from 0.007 to 0.0198, which is consistent with either FHH or PHPT. Although a family history of hypercalcemia was negative, and PET-CT with fluorocholine was suggestive of a parathyroid adenoma, genetic analysis of the CaSR gene identified a heterozygous inactivating mutation NM_000388.4:c.1670G>A p. (Gly557Glu) in exon 6 and a polymorphism NM_000388.4:c.1192G>A p. (Asp398Asn) in exon 4. The G557E mutation has been previously reported in a Japanese family in which all family members with the mutation had Ca/Cr below 0.01 consistent with FHH. The biochemical profile of FHH and PHPT may overlap. Our FHH patient with a G557E CaSR mutation illustrates that the differential diagnosis can be difficult in an index case with no family history, (false) positive parathyroid imaging and higher calciuria than expected for FHH. Calcium intake, vitamin D status and bone resorption might have contributed to the Ca/Cr variations over a 13-year clinical follow up. This case thus emphasizes the irreplaceable role of genetic testing of the CaSR gene when clinical evaluation is inconclusive.
- MeSH
- diferenciální diagnóza MeSH
- dospělí MeSH
- hyperkalcemie krev vrozené diagnóza diagnostické zobrazování MeSH
- lidé MeSH
- následné studie MeSH
- PET/CT metody MeSH
- primární hyperparatyreóza krev diagnóza diagnostické zobrazování MeSH
- prognóza MeSH
- receptory "calcium-sensing" krev MeSH
- vápník krev MeSH
- vitamin D krev MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- receptory "calcium-sensing" MeSH
- vápník MeSH
- vitamin D MeSH
