ArticleCaspian journal of internal medicine2013
Three cases of alkaptonuria in one family in Mazandaran Province, Iran.
Article in Caspian journal of internal medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 4 citations in OpenAlex.
- Molecular Analysis of the HGD Gene in 9 Families With Alkaptonuric Ochronosis in Iran and Identification of Two Novel Variants.Molecular genetics & genomic medicine · 2025Article
- Endocrine Petrified Ear: Associated Endocrine Conditions in Auricular Calcification/Ossification (A Sample-Focused Analysis).Diagnostics (Basel, Switzerland) · 2024Review
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlkaptonuria is a rare genetic disease leading to the accumulation of homogentesic acid in joint and ear cartilage, sclera and some other tissues causing significant morbidity in these patients. In this paper, we report three cases of Alkaptonuria among the family or household members. CASE PRESENTATION: A 51-year-old man with mechanical low back and knee pain was referred to Rheumatology Clinic of Babol University of Medical Sciences. The physical examination showed thoracic kyphosis and limitation of motion in thoraco-lumbar spine, severe knee osteoarthritis and blue-black discoloration of ear cartilages. There was intervertebral disc calcification in plain radiography, and mitral valve calcification in echocardiography. His urine sample was tested positive in Benedict's test. The diagnosis was confirmed by qualitative assessment of homogentesic acid (HGA) that was highly positive. In addition, we found two more cases of Alkaptonuria in his family.
conclusionAlthough alkaptonuria is a rare disease, but it may be found in cluster among the family members.
Indexed as
Identifiers
24009959PMC3755823W1916501325What OpenQuestion holds
Registered trials
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