家族性低カルシウム尿性高カルシウム血症 FHH
WordNet
- relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
- occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
- the presence of abnormally high levels of calcium in the blood; usually the result of excessive bone resorption in hyperparathyroidism or Pagets disease (同)hypercalcaemia
PrepTutorEJDIC
- 家族の,家族特有の / 違伝的な,血統にあらわれる
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/04/17 12:53:02」(JST)
[Wiki en表示]
| Familial hypocalciuric hypercalcemia |
| Classification and external resources |
| Specialty |
endocrinology |
| ICD-10 |
E83.5 |
| OMIM |
145980 145981 600740 |
| DiseasesDB |
1326 |
| MeSH |
D006934 |
|
[edit on Wikidata]
|
Familial hypocalciuric hypercalcemia (FHH) is a condition that can cause hypercalcemia, a serum calcium level typically above 10.2 mg/dL. It is also known as familial benign hypocalciuric hypercalcemia (FBHH) where there is usually a family history of hypercalcemia which is mild, a urine calcium to creatinine ratio <0.01, and urine calcium <200 mg/day.
Contents
- 1 Signs and symptoms
- 2 Causes
- 3 Pathogenesis
- 3.1 Functions of the Calcium-sensing Receptor
- 4 Diagnosis
- 5 Treatment
- 6 References
Signs and symptoms
Most cases of familial hypocalciuric hypercalcemia are asymptomatic.
- Hypercalcemia
- Hypocalciuria ( Ca excretion rate < 0.02 mmol/L)
- Hypermagnesemia
Causes
Types include:
| Name |
OMIM |
Locus |
Gene |
| HHC1 |
145980 |
3q13.3-q21 |
CaSR |
| HHC2 |
145981 |
19p13.3 |
? |
| HHC3 |
600740 |
19q13[1] |
? |
Pathogenesis
Most cases of FHH are associated with loss of function mutations in the calcium-sensing receptor (CaSR) gene,[2] expressed in parathyroid and kidney tissue. The perceived lack of calcium levels by the parathyroid leads to constitutively high levels of parathyroid hormone and therefore hypercalcemia. Functionally, parathyroid hormone (PTH) increases calcium resorption from the bone and increases phosphate excretion from the kidney which increases serum calcium and decreases serum phosphate.
Another form has been associated with chromosome 3q.[3]
Functions of the Calcium-sensing Receptor
- Parathyroid gland: mediates negative feedback mechanisms relating to PTH secretion (PTH secretion should decrease if there is a high blood calcium level). Abnormalities in the CaSR here cause hypercalcemia.
- Kidneys: mediates negative feedback mechanisms relating to calcium reabsorption from the tubular system (reabsorption should decrease if there is a high blood calcium level). Abnormalities in the CaSR here cause both hypercalcemia and hypocalciuria.
Diagnosis
This condition is indicated by the presence of hypercalcemia (elevated levels of calcium in the blood) at the same time with hypocalciuria (low levels of calcium in the urine). (Usually elevated calcium levels in the blood are correlated with elevated calcium urine levels, as a properly sensing kidney works to excrete the mineral.) A family history could reinforce the diagnosis.
Treatment
No treatment is generally required, as bone demineralisation and kidney stones are relatively uncommon in the condition.[4]
References
- ^ Lloyd SE, Pannett AA, Dixon PH, Whyte MP, Thakker RV (January 1999). "Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13". Am. J. Hum. Genet. 64 (1): 189–95. doi:10.1086/302202. PMC 1377717. PMID 9915958.
- ^ "A Practical Approach to Hypercalcemia - May 1, 2003 - American Family Physician". Retrieved 2009-03-29.
- ^ Chou YH, Brown EM, Levi T, et al. (July 1992). "The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families". Nat. Genet. 1 (4): 295–300. doi:10.1038/ng0792-295. PMID 1302026.
- ^ "Familial Hypouricemic Hypercalcemia". Archived from the original on 2009-02-24. Retrieved 2009-06-07.
|
Inborn error of metal metabolism (E83, 275)
|
|
| Transition metal |
| Fe |
| high: |
- Primary iron overload disorder: Hemochromatosis/HFE1
- Juvenile/HFE2
- HFE3
- African iron overload/HFE4
- Aceruloplasminemia
- Atransferrinemia
- Hemosiderosis
|
|
| deficiency: |
|
|
|
| Cu |
| high: |
- Copper toxicity
- Wilson's disease
|
|
| deficiency: |
- Copper deficiency
- Menkes disease/Occipital horn syndrome
|
|
|
| Zn |
| high: |
|
|
| deficiency: |
- Acrodermatitis enteropathica
|
|
|
|
| Electrolyte |
| Na+ and K+ |
- see Template:Water-electrolyte imbalance and acid-base imbalance
|
|
| PO43− |
| high: |
|
|
| deficiency: |
- Hypophosphatemia
- alkaline phosphatase
|
|
|
| Mg2+ |
|
|
| Ca2+ |
| high: |
- Hypercalcaemia
- Milk-alkali syndrome (Burnett's)
- Calcinosis (Calciphylaxis, Calcinosis cutis)
- Calcification (Metastatic calcification, Dystrophic calcification)
- Familial hypocalciuric hypercalcemia
|
|
| deficiency: |
- Hypocalcaemia
- Osteomalacia
- Pseudohypoparathyroidism (Albright's hereditary osteodystrophy)
- Pseudopseudohypoparathyroidism
|
|
|
|
Cell surface receptor deficiencies
|
|
G protein-coupled receptor
(including hormone) |
| Class A |
- TSHR (Congenital hypothyroidism 1)
- LHCGR (Luteinizing hormone insensitivity, Leydig cell hypoplasia, Male-limited precocious puberty)
- FSHR (Follicle-stimulating hormone insensitivity, XX gonadal dysgenesis)
- GnRHR (Gonadotropin-releasing hormone insensitivity)
- EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2)
- AVPR2 (Nephrogenic diabetes insipidus 1)
- PTGER2 (Aspirin-induced asthma)
|
|
| Class B |
- PTH1R (Jansen's metaphyseal chondrodysplasia)
|
|
| Class C |
- CASR (Familial hypocalciuric hypercalcemia)
|
|
| Class F |
- FZD4 (Familial exudative vitreoretinopathy 1)
|
|
|
Enzyme-linked receptor
(including
growth factor) |
| RTK |
- ROR2 (Robinow syndrome)
- FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome)
- FGFR2 (Apert syndrome, Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome)
- FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome)
- INSR (Donohue syndrome
- Rabson–Mendenhall syndrome)
- NTRK1 (Congenital insensitivity to pain with anhidrosis)
- KIT (KIT Piebaldism, Gastrointestinal stromal tumor)
|
|
| STPK |
- AMHR2 (Persistent Müllerian duct syndrome II)
- TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia)
- TGFBR1/TGFBR2 (Loeys–Dietz syndrome)
|
|
| GC |
- GUCY2D (Leber's congenital amaurosis 1)
|
|
|
| JAK-STAT |
- Type I cytokine receptor: GH (Laron syndrome)
- CSF2RA (Surfactant metabolism dysfunction 4)
- MPL (Congenital amegakaryocytic thrombocytopenia)
|
|
| TNF receptor |
- TNFRSF1A (TNF receptor associated periodic syndrome)
- TNFRSF13B (Selective immunoglobulin A deficiency 2)
- TNFRSF5 (Hyper-IgM syndrome type 3)
- TNFRSF13C (CVID4)
- TNFRSF13B (CVID2)
- TNFRSF6 (Autoimmune lymphoproliferative syndrome 1A)
|
|
| Lipid receptor |
- LRP: LRP2 (Donnai–Barrow syndrome)
- LRP4 (Cenani–Lenz syndactylism)
- LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1)
- LDLR (LDLR Familial hypercholesterolemia)
|
|
| Other/ungrouped |
- Immunoglobulin superfamily: AGM3, 6
- Integrin: LAD1
- Glanzmann's thrombasthenia
- Junctional epidermolysis bullosa with pyloric atresia
EDAR (EDAR hypohidrotic ectodermal dysplasia)
- PTCH1 (Nevoid basal-cell carcinoma syndrome)
- BMPR1A (BMPR1A juvenile polyposis syndrome)
- IL2RG (X-linked severe combined immunodeficiency)
- See also
- cell surface receptors
|
|
Congenital endocrine disorders (Q89.1–Q89.2, 759.1–759.2)
|
|
| Pituitary |
- Congenital hypopituitarism
|
|
| Thyroid |
- Thyroid disease
- Persistent thyroglossal duct
- Thyroglossal cyst
- Congenital hypothyroidism
- Thyroid dysgenesis
- Thyroid dyshormonogenesis
- Pendred syndrome
|
|
| Parathyroid |
- Congenital absence of parathyroid
|
|
| Adrenal |
|
UpToDate Contents
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English Journal
- GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts.
- Mayr B1, Schnabel D1, Dörr HG1, Schöfl C2.
- European journal of endocrinology / European Federation of Endocrine Societies.Eur J Endocrinol.2016 May;174(5):R189-208. doi: 10.1530/EJE-15-1028. Epub 2015 Dec 8.
- The calcium-sensing receptor (CASR) is the main calcium sensor in the maintenance of calcium metabolism. Mutations of the CASR, the G protein alpha 11 (GNA11) and the adaptor-related protein complex 2 sigma 1 subunit (AP2S1) genes can shift the set point for calcium sensing causing hyper- or hypo-ca
- PMID 26646938
- Familial hypocalciuric hypercalcemia types 1 and 3 and primary hyperparathyroidism: similarities and differences.
- Vargas-Poussou R1,2,3, Mansour-Hendili L1,2,4, Baron S4,5, Bertocchio JP3,4,5, Travers C1, Simian C1, Treard C1,2, Baudouin V3,6, Beltran S7, Broux F8, Camard O9, Cloarec S10, Cormier C11, Debussche X12, Dubosclard E13, Eid C14, Haymann JP15, Romuald Kiando S2, Kuhn JM16, Lefort G17, Linglart A18, Lucas-Pouliquen B19, Macher MA3,6, Maruani G5, Ouzounian S20, Polak M21, Requeda E22, Robier D9, Silve C23, Souberbielle JC24, Tack I25, Vezzosi D26, Jeunemaitre X1,2,3,4, Houillier P3,4,5,27,28.
- The Journal of clinical endocrinology and metabolism.J Clin Endocrinol Metab.2016 Mar 10:jc20153442. [Epub ahead of print]
- CONTEXT: Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogeneous condition resembling primary hyperparathyroidism (PHPT) but not curable by surgery; FHH types 1, 2 and 3 are due to loss-of-function mutations of the CASR, GNA11 or AP2S1 genes, respectively.OBJECTIVE: To compare the
- PMID 26963950
- The influence of thiazide intake on calcium and parathyroid hormone levels in patients with primary hyperparathyroidism.
- Riss P1, Di Kammer M1, Selberherr A1, Bichler C1, Kaderli R1, Scheuba C1, Niederle B1.
- Clinical endocrinology.Clin Endocrinol (Oxf).2016 Feb 27. doi: 10.1111/cen.13046. [Epub ahead of print]
- OBJECTIVE: The effects of thiazide medication in patients with primary hyperparathyroidism (PHPT) have so far not been elucidated. The aim of this study was to analyse the extent to which the administration of thiazides may influence biochemical parameters and therefore the diagnosis of PHPT in a la
- PMID 26921840
Japanese Journal
- A case of isolated hypocalciuric hypercalcemia and type 2 diabetes mellitus followed by Grave's disease
- Tojikubo Masayuki,Akazawa Shoichi,Nakano Yuko,Nakamura Satoe,Yamashita Shunichi
- Acta medica Nagasakiensia 59(1), 27-31, 2014-07
- … Assessment of hypercalcemia revealed that urinary calcium excretion was extremely low (0 mg/day) and the fractional excretion of Ca (FECa) was 0%. … Familial hypocalciuric hypercalcemia was suspected. …
- NAID 120005468239
- A case of isolated hypocalciuric hypercalcemia and type 2 diabetes mellitus followed by Grave's disease
- , , , ,
- Acta Medica Nagasakiensia 59(1), 27-31, 2014
- … Assessment of hypercalcemiarevealed that urinary calcium excretion was extremely low (0 mg/day) and the fractional excretion of Ca (FECa) was 0%.Familial hypocalciuric hypercalcemia was suspected. …
- NAID 130004690995
- 家族性副甲状腺機能亢進症 (特集 知っておきたい先天性・遺伝性内分泌疾患)
Related Links
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss the different types of familial hypocalciuric hypercalcemia. Click on the links below to go to OMIM and review these ...
- The portal for rare diseases and orphan drugs ... Summary Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of mineral metabolism characterized by lifelong moderate hypercalcemia along with ...
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★リンクテーブル★
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家族性低カルシウム尿性高カルシウム血症 familial hypocalciuric hypercalcemia
[★]
- 英
- familial hypocalciuric hypercalcemia, FHH
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- 関
- family、family member、household、kindred
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高カルシウム血症