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Hypouricemia, hypercalcinuria, and decreased bone density

MedGen UID:
343419
•Concept ID:
C1855793
•
Disease or Syndrome
Synonym: Hypouricemia, Hypercalcinuria, and Decreased Bone Density
 
Monarch Initiative: MONDO:0009438
OMIM®: 242050

Clinical features

From HPO
Hypercalciuria
MedGen UID:
43775
•Concept ID:
C0020438
•
Finding
Abnormally high level of calcium in the urine.
See: Feature record | Search on this feature
Abnormality of the skeletal system
MedGen UID:
867418
•Concept ID:
C4021790
•
Anatomical Abnormality
An abnormality of the skeletal system.
See: Feature record | Search on this feature
Hypouricemia
MedGen UID:
113163
•Concept ID:
C0221333
•
Finding
An abnormally low level of uric acid in the blood.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Hypouricemia with hypercalciuria: Longitudinal study and review of the topic.
Moraleda Mesa T, de la Torre Sandoval C, Duque González S, Rolo Álvarez AK, Luis Yanes MI, García Nieto VM
Nefrologia (Engl Ed) 2024 Mar-Apr;44(2):233-240. Epub 2024 Apr 16 doi: 10.1016/j.nefroe.2024.03.023. PMID: 38631961

Diagnosis

Hypouricemia with hypercalciuria: Longitudinal study and review of the topic.
Moraleda Mesa T, de la Torre Sandoval C, Duque González S, Rolo Álvarez AK, Luis Yanes MI, García Nieto VM
Nefrologia (Engl Ed) 2024 Mar-Apr;44(2):233-240. Epub 2024 Apr 16 doi: 10.1016/j.nefroe.2024.03.023. PMID: 38631961

Therapy

Hypouricemia, hypercalciuria, and decreased bone density: a hereditary syndrome.
Sperling O, Weinberger A, Oliver I, Liberman UA, De Vries A
Ann Intern Med 1974 Apr;80(4):482-7. doi: 10.7326/0003-4819-80-4-482. PMID: 4621080

Clinical prediction guides

Hypouricemia with hypercalciuria: Longitudinal study and review of the topic.
Moraleda Mesa T, de la Torre Sandoval C, Duque González S, Rolo Álvarez AK, Luis Yanes MI, García Nieto VM
Nefrologia (Engl Ed) 2024 Mar-Apr;44(2):233-240. Epub 2024 Apr 16 doi: 10.1016/j.nefroe.2024.03.023. PMID: 38631961

Supplemental Content

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    • PubMed (OMIM)
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