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Hypophosphatemic bone disease(HBD)

MedGen UID:
333534
Concept ID:
C1840321
Disease or Syndrome
Synonym: HBD
 
Monarch Initiative: MONDO:0007799
OMIM®: 146350

Clinical features

From HPO
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Osteomalacia
MedGen UID:
14533
Concept ID:
C0029442
Disease or Syndrome
Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.
Rickets
MedGen UID:
48470
Concept ID:
C0035579
Disease or Syndrome
Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.
Skeletal dysplasia
MedGen UID:
98053
Concept ID:
C0410528
Disease or Syndrome
A general term describing features characterized by abnormal development of bones and connective tissues.
Bowing of the legs
MedGen UID:
1807399
Concept ID:
C5574706
Finding
A bending or abnormal curvature affecting a long bone of the leg.
Hypophosphatemia
MedGen UID:
39327
Concept ID:
C0085682
Disease or Syndrome
An abnormally decreased phosphate concentration in the blood.

Recent clinical studies

Etiology

Long T, Hou J, Yang N, Zhou M, Li Y, Li J, Tang Y, Chen D, Hu S
J Clin Endocrinol Metab 2021 Sep 27;106(10):e4202-e4209. doi: 10.1210/clinem/dgab258. PMID: 33864458
Eswarakumar AS, Ma NS, Ward LM, Backeljauw P, Wasserman H, Weber DR, DiMeglio LA, Imel EA, Gagne J, Cody D, Zimakas P, Topor LS, Agrawal S, Calabria A, Tebben P, Faircloth RS, Gordon R, Casey L, Carpenter TO
Clin Pediatr (Phila) 2020 Oct;59(12):1080-1085. Epub 2020 Jul 15 doi: 10.1177/0009922820941097. PMID: 32666808
González-Meneses López A
Adv Ther 2020 May;37(Suppl 2):25-28. Epub 2020 Mar 31 doi: 10.1007/s12325-019-01177-0. PMID: 32236867
Hajek J, Ouma S, Hemmett J, Starko R, Apiyo P
J Int Assoc Provid AIDS Care 2017 Sep/Oct;16(5):430-432. Epub 2017 Jul 10 doi: 10.1177/2325957417718624. PMID: 28689456
Jequier S, Cramer B, Goodyer P, Kronick J, Reade T
Pediatr Radiol 1986;16(2):135-9. doi: 10.1007/BF02386638. PMID: 3513110

Diagnosis

Long T, Hou J, Yang N, Zhou M, Li Y, Li J, Tang Y, Chen D, Hu S
J Clin Endocrinol Metab 2021 Sep 27;106(10):e4202-e4209. doi: 10.1210/clinem/dgab258. PMID: 33864458
Eswarakumar AS, Ma NS, Ward LM, Backeljauw P, Wasserman H, Weber DR, DiMeglio LA, Imel EA, Gagne J, Cody D, Zimakas P, Topor LS, Agrawal S, Calabria A, Tebben P, Faircloth RS, Gordon R, Casey L, Carpenter TO
Clin Pediatr (Phila) 2020 Oct;59(12):1080-1085. Epub 2020 Jul 15 doi: 10.1177/0009922820941097. PMID: 32666808
González-Meneses López A
Adv Ther 2020 May;37(Suppl 2):25-28. Epub 2020 Mar 31 doi: 10.1007/s12325-019-01177-0. PMID: 32236867
Eguchi H, Tsuruta M, Tani J, Kuwahara R, Hiromatsu Y
Intern Med 2014;53(3):233-7. doi: 10.2169/internalmedicine.53.1213. PMID: 24492692

Therapy

Eswarakumar AS, Ma NS, Ward LM, Backeljauw P, Wasserman H, Weber DR, DiMeglio LA, Imel EA, Gagne J, Cody D, Zimakas P, Topor LS, Agrawal S, Calabria A, Tebben P, Faircloth RS, Gordon R, Casey L, Carpenter TO
Clin Pediatr (Phila) 2020 Oct;59(12):1080-1085. Epub 2020 Jul 15 doi: 10.1177/0009922820941097. PMID: 32666808
Hajek J, Ouma S, Hemmett J, Starko R, Apiyo P
J Int Assoc Provid AIDS Care 2017 Sep/Oct;16(5):430-432. Epub 2017 Jul 10 doi: 10.1177/2325957417718624. PMID: 28689456
Eguchi H, Tsuruta M, Tani J, Kuwahara R, Hiromatsu Y
Intern Med 2014;53(3):233-7. doi: 10.2169/internalmedicine.53.1213. PMID: 24492692
Scriver CR, Reade TM, DeLuca HF, Hamstra AJ
N Engl J Med 1978 Nov 2;299(18):976-9. doi: 10.1056/NEJM197811022991803. PMID: 308618

Prognosis

Eswarakumar AS, Ma NS, Ward LM, Backeljauw P, Wasserman H, Weber DR, DiMeglio LA, Imel EA, Gagne J, Cody D, Zimakas P, Topor LS, Agrawal S, Calabria A, Tebben P, Faircloth RS, Gordon R, Casey L, Carpenter TO
Clin Pediatr (Phila) 2020 Oct;59(12):1080-1085. Epub 2020 Jul 15 doi: 10.1177/0009922820941097. PMID: 32666808

Clinical prediction guides

Meister M, Johnson A, Popelka GR, Kim GS, Whyte MP
Ann Otol Rhinol Laryngol 1986 Jul-Aug;95(4 Pt 1):415-20. doi: 10.1177/000348948609500418. PMID: 3740719
Scriver CR, Reade TM, DeLuca HF, Hamstra AJ
N Engl J Med 1978 Nov 2;299(18):976-9. doi: 10.1056/NEJM197811022991803. PMID: 308618

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