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

Primary hyperparathyroidism in children is very rare. It is caused by overproduction of parathormone by a pathologically changed parathyroid gland. We carried out a retrospective study in 10 patients (age 10-17 years) who had surgical treatment between 1996 and 2007. The main signs of primary hyperparathyroidism were urolithiasis, nephrolithiasis, nephrocalcinosis and bone resorption, as well as non-specific signs such as fatigue, torpidness and muscle weakness. Patients were examined using sonography, MIBI-scintigraphy, CT and MRI. Calcium was measured before and after surgery; parathormone was monitored postoperatively. Surgery was curative in nine patients; reoperation was necessary in one patient because an ectopic parathyroid gland was not detected during the primary operation. Other major complications were not observed. Removal of pathologically changed parathyroid glands offers definitive and safe treatment of primary hyperparathyroidism in children. Special care should be taken if an ectopic parathyroid gland is suspected.

• MeSH
• biologické markery krev   MeSH
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• parathormon krev   MeSH
• paratyreoidektomie * MeSH
• primární hyperparatyreóza krev   chirurgie   MeSH
• vápník krev   MeSH
• výsledek terapie MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• biologické markery MeSH
• parathormon MeSH
• vápník MeSH

UNLABELLED: OBJECTIVE The clinical picture of primary hyperparathyroidism (PHPT) has changed during the past 50 years. It is currently unknown whether or not PHPT is associated with an increased risk of cholelithiasis. PATIENTS: To determine the frequency of cholelithiasis in PHPT we analyzed 645 consecutive patients seen at Prague University Hospital from 1992 through 2002 and compared them with a of normocalcaemic control group. METHODS: We investigated 645 patients with proven PHPT (518 female and 127 males aged 20-80 years) during a period of 10 years. To determine the frequency of cholelithiasis in normal population we analyzed 2,015 patients receiving periodic health examination at an outpatient ward from January 1998 to December 1998 (1505 females and 510 males aged 24-85 years). A detailed history, physical examination, biochemical measurements and abdominal ultrasonography were done. RESULTS: Cholelithiasis was proven in 157 of 518 women (30.3%) and in 11 of 127 men (8.66%) with PHPT. Their mean age was 59.67+/-12 years in women and 56.0+/-10 years in men. In the control group 260 of 1505 women (17.27%) and 54 of the 510 men (10.58%) had cholelithiasis. The mean age was 64.55+/-13.8 years in women and 61.2+/-12.4 in men. Only in the case of women, the difference was highly statistically significant (p<0.001). There were no significant differences between the mean values for the serum calcium level, bone alkaline phosphatase, total cholesterol, urinary hydroxyproline and body mass index in hyperparathyroid patients with and without cholelithiasis. However the hyperparathyroid women with cholelithiasis had an increased concentration of parathyroid hormone (236.1+/-56 pg/ml) compared with hyperparathyroid women without cholelithiasis (179.0+/-45 pg/ml), p<0.01. CONCLUSION: The mechanism of PTH associated gallstone formation may involve inhibition of gallblader emptying, hepatic bile secretion and sphincter Oddi motility as well as modification of bile composition. While it might be difficult to prove it seems likely that the association of cholelithiasis with primary hyperparathyroidism in women with a high concentration of parathyroid hormone is more than merely coincidental and from our study it is obvious that a significant association exists.

• MeSH
• cholelitiáza komplikace   epidemiologie   etiologie   MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• parathormon krev   MeSH
• pohlavní dimorfismus MeSH
• primární hyperparatyreóza krev   komplikace   MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• studie případů a kontrol MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH
• Názvy látek
• parathormon MeSH