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Hypophosphatemic rickets and hyperparathyroidism

MedGen UID:
383131
Concept ID:
C2677524
Disease or Syndrome
Synonym: Hypophosphatemic Rickets And Hyperparathyroidism
 
Monarch Initiative: MONDO:0012795
OMIM®: 612089

Clinical features

From HPO
Bone pain
MedGen UID:
57489
Concept ID:
C0151825
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
Renal phosphate wasting
MedGen UID:
335116
Concept ID:
C1845169
Finding
High urine phosphate in the presence of hypophosphatemia.
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).
Chiari type I malformation
MedGen UID:
196689
Concept ID:
C0750929
Congenital Abnormality
Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)
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.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Hypophosphatemic rickets
MedGen UID:
309957
Concept ID:
C1704375
Disease or Syndrome
Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Rachitic rosary
MedGen UID:
1642285
Concept ID:
C4551565
Disease or Syndrome
A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.
Hypercalcemia
MedGen UID:
5686
Concept ID:
C0020437
Disease or Syndrome
An abnormally increased calcium concentration in the blood.
Hypophosphatemia
MedGen UID:
39327
Concept ID:
C0085682
Disease or Syndrome
An abnormally decreased phosphate concentration in the blood.
Elevated circulating parathyroid hormone level
MedGen UID:
167805
Concept ID:
C0857973
Finding
An abnormal increased concentration of parathyroid hormone.
Hyperparathyroidism
MedGen UID:
6967
Concept ID:
C0020502
Disease or Syndrome
Excessive production of parathyroid hormone (PTH) by the parathyroid glands.
Parathyroid hyperplasia
MedGen UID:
75767
Concept ID:
C0271844
Disease or Syndrome
Hyperplasia of the parathyroid gland.

Professional guidelines

PubMed

Haffner D, Leifheit-Nestler M, Grund A, Schnabel D
Pediatr Nephrol 2022 Oct;37(10):2289-2302. Epub 2022 Mar 29 doi: 10.1007/s00467-022-05505-5. PMID: 35352187Free PMC Article
Baroncelli GI, Mora S
Front Endocrinol (Lausanne) 2021;12:688309. Epub 2021 Aug 6 doi: 10.3389/fendo.2021.688309. PMID: 34421819Free PMC Article
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article

Recent clinical studies

Etiology

Puente-Ruiz N, Docio P, Unzueta MTG, Lavín BA, Maiztegi A, Vega AI, Piedra M, Riancho-Zarrabeitia L, Mateos F, Gonzalez-Lamuño D, Valero C, Riancho JA
J Intern Med 2023 Jun;293(6):753-762. Epub 2023 Apr 16 doi: 10.1111/joim.13635. PMID: 36999651
Tavana N, Thilakavathy K, Kennerson ML, Ting TH
Endokrynol Pol 2021;72(4):366-394. Epub 2021 Jul 22 doi: 10.5603/EP.a2021.0062. PMID: 34292571
Lecoq AL, Brandi ML, Linglart A, Kamenický P
Metabolism 2020 Feb;103S:154049. Epub 2019 Dec 18 doi: 10.1016/j.metabol.2019.154049. PMID: 31863781
Tonini G, Tatò L, Rigon F, Radetti G, De Sanctis C, De Sanctis V, Buzi F, Bozzola M, Bona G, Bernasconi S
Minerva Pediatr 2004 Feb;56(1):125-31. PMID: 15249924
Teotia M, Teotia SP
Indian J Pediatr 1997 Mar-Apr;64(2):153-7. doi: 10.1007/BF02752435. PMID: 10771831

Diagnosis

Lecoq AL, Chaumet-Riffaud P, Blanchard A, Dupeux M, Rothenbuhler A, Lambert B, Durand E, Boros E, Briot K, Silve C, Francou B, Piketty M, Chanson P, Brailly-Tabard S, Linglart A, Kamenický P
J Bone Miner Res 2020 Jul;35(7):1263-1273. Epub 2020 Mar 27 doi: 10.1002/jbmr.3992. PMID: 32101626
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article
Stokes VJ, Nielsen MF, Hannan FM, Thakker RV
J Bone Miner Res 2017 Nov;32(11):2157-2170. Epub 2017 Nov 2 doi: 10.1002/jbmr.3296. PMID: 28914984Free PMC Article
Tonini G, Tatò L, Rigon F, Radetti G, De Sanctis C, De Sanctis V, Buzi F, Bozzola M, Bona G, Bernasconi S
Minerva Pediatr 2004 Feb;56(1):125-31. PMID: 15249924
Teotia M, Teotia SP
Indian J Pediatr 1997 Mar-Apr;64(2):153-7. doi: 10.1007/BF02752435. PMID: 10771831

Therapy

Haffner D, Leifheit-Nestler M, Grund A, Schnabel D
Pediatr Nephrol 2022 Oct;37(10):2289-2302. Epub 2022 Mar 29 doi: 10.1007/s00467-022-05505-5. PMID: 35352187Free PMC Article
Baroncelli GI, Mora S
Front Endocrinol (Lausanne) 2021;12:688309. Epub 2021 Aug 6 doi: 10.3389/fendo.2021.688309. PMID: 34421819Free PMC Article
Lecoq AL, Brandi ML, Linglart A, Kamenický P
Metabolism 2020 Feb;103S:154049. Epub 2019 Dec 18 doi: 10.1016/j.metabol.2019.154049. PMID: 31863781
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article
Teotia M, Teotia SP
Indian J Pediatr 1997 Mar-Apr;64(2):153-7. doi: 10.1007/BF02752435. PMID: 10771831

Prognosis

Kim KJ, Song JE, Kim JH, Hong N, Kim SG, Lee J, Rhee Y
Front Endocrinol (Lausanne) 2023;14:1229750. Epub 2023 Aug 10 doi: 10.3389/fendo.2023.1229750. PMID: 37635983Free PMC Article
Anagnostis P, Vamvakidis K, Tournis S
J Musculoskelet Neuronal Interact 2019 Sep 1;19(3):370-373. PMID: 31475945Free PMC Article
Wolf M, Chertow GM, Macdougall IC, Kaper R, Krop J, Strauss W
JCI Insight 2018 Dec 6;3(23) doi: 10.1172/jci.insight.124486. PMID: 30518682Free PMC Article
Kocaoglu M, Bilen FE, Sen C, Eralp L, Balci HI
J Bone Joint Surg Br 2011 Jan;93(1):52-6. doi: 10.1302/0301-620X.93B1.24788. PMID: 21196543
Savio RM, Gosnell JE, Posen S, Reeve TS, Delbridge LW
Arch Surg 2004 Feb;139(2):218-22. doi: 10.1001/archsurg.139.2.218. PMID: 14769584

Clinical prediction guides

Kim KJ, Song JE, Kim JH, Hong N, Kim SG, Lee J, Rhee Y
Front Endocrinol (Lausanne) 2023;14:1229750. Epub 2023 Aug 10 doi: 10.3389/fendo.2023.1229750. PMID: 37635983Free PMC Article
Ewert A, Rehberg M, Schlingmann KP, Hiort O, John-Kroegel U, Metzing O, Wühl E, Schaefer F, Kemper MJ, Derichs U, Richter-Unruh A, Patzer L, Albers N, Dunstheimer D, Haberland H, Heger S, Schröder C, Jorch N, Schmid E, Staude H, Weitz M, Freiberg C, Leifheit-Nestler M, Zivicnjak M, Schnabel D, Haffner D
J Clin Endocrinol Metab 2023 Sep 18;108(10):e998-e1006. doi: 10.1210/clinem/dgad223. PMID: 37097907
Lecoq AL, Chaumet-Riffaud P, Blanchard A, Dupeux M, Rothenbuhler A, Lambert B, Durand E, Boros E, Briot K, Silve C, Francou B, Piketty M, Chanson P, Brailly-Tabard S, Linglart A, Kamenický P
J Bone Miner Res 2020 Jul;35(7):1263-1273. Epub 2020 Mar 27 doi: 10.1002/jbmr.3992. PMID: 32101626
Emma F, Cappa M, Antoniazzi F, Bianchi ML, Chiodini I, Eller Vainicher C, Di Iorgi N, Maghnie M, Cassio A, Balsamo A, Baronio F, de Sanctis L, Tessaris D, Baroncelli GI, Mora S, Brandi ML, Weber G, D'Ausilio A, Lanati EP
Ital J Pediatr 2019 May 31;45(1):67. doi: 10.1186/s13052-019-0654-6. PMID: 31151476Free PMC Article
Teotia M, Teotia SP
Indian J Pediatr 1997 Mar-Apr;64(2):153-7. doi: 10.1007/BF02752435. PMID: 10771831

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