Amelioration of Hypophosphatemic Rickets and Osteoporosis With Pamidronate and Growth Hormone in Lowe Syndrome
The oculocerebrorenal syndrome of Lowe, an X-linked multisystem disorder, was diagnosed in a male patient who presented with typical abnormalities of the eyes, kidneys and nervous system. Besides congenital cataracts, renal tubular dysfunction and psychomotor retardation, the patient had also suffer...
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| Format: | Article |
| Language: | English |
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Elsevier
2009-09-01
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| Series: | Journal of the Formosan Medical Association |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0929664609603971 |
| _version_ | 1818310014967742464 |
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| author | Jia-Woei Hou |
| author_facet | Jia-Woei Hou |
| author_sort | Jia-Woei Hou |
| collection | DOAJ |
| description | The oculocerebrorenal syndrome of Lowe, an X-linked multisystem disorder, was diagnosed in a male patient who presented with typical abnormalities of the eyes, kidneys and nervous system. Besides congenital cataracts, renal tubular dysfunction and psychomotor retardation, the patient had also suffered from profound failure to thrive, growth hormone deficiency, severe osteoporosis with hypophosphatemic rickets, and progressive renal dysfunction since early childhood, which were attributed to the metabolic derangements following Fanconi syndrome. Direct sequencing of the OCRL1 gene (responsible for the oculocerebrorenal syndrome of Lowe) revealed a de novo c.2282_2283insT in exon 20, which resulted in premature termination of translation (D762X). After monthly intravenous administration of pamidronate since the age of 17.8 years, his urine creatinine clearance and tubular resorption of phosphate increased slightly and bone mineral density was much improved (Z score increased from −7.3 to −3.3) without deterioration of renal function. Simultaneous growth hormone therapy enhanced the positive response. The beneficial osseous and renal effects of the bisphosphonate, along with growth hormone treatment in Lowe syndrome with hypophosphatemia, may be related to reduced renal calcium and phosphate excretion. |
| first_indexed | 2024-12-13T07:39:20Z |
| format | Article |
| id | doaj.art-15f7d8e082cc49dc96344ff03249c9e6 |
| institution | Directory Open Access Journal |
| issn | 0929-6646 |
| language | English |
| last_indexed | 2024-12-13T07:39:20Z |
| publishDate | 2009-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of the Formosan Medical Association |
| spelling | doaj.art-15f7d8e082cc49dc96344ff03249c9e62022-12-21T23:55:00ZengElsevierJournal of the Formosan Medical Association0929-66462009-09-01108973073510.1016/S0929-6646(09)60397-1Amelioration of Hypophosphatemic Rickets and Osteoporosis With Pamidronate and Growth Hormone in Lowe SyndromeJia-Woei HouThe oculocerebrorenal syndrome of Lowe, an X-linked multisystem disorder, was diagnosed in a male patient who presented with typical abnormalities of the eyes, kidneys and nervous system. Besides congenital cataracts, renal tubular dysfunction and psychomotor retardation, the patient had also suffered from profound failure to thrive, growth hormone deficiency, severe osteoporosis with hypophosphatemic rickets, and progressive renal dysfunction since early childhood, which were attributed to the metabolic derangements following Fanconi syndrome. Direct sequencing of the OCRL1 gene (responsible for the oculocerebrorenal syndrome of Lowe) revealed a de novo c.2282_2283insT in exon 20, which resulted in premature termination of translation (D762X). After monthly intravenous administration of pamidronate since the age of 17.8 years, his urine creatinine clearance and tubular resorption of phosphate increased slightly and bone mineral density was much improved (Z score increased from −7.3 to −3.3) without deterioration of renal function. Simultaneous growth hormone therapy enhanced the positive response. The beneficial osseous and renal effects of the bisphosphonate, along with growth hormone treatment in Lowe syndrome with hypophosphatemia, may be related to reduced renal calcium and phosphate excretion.http://www.sciencedirect.com/science/article/pii/S0929664609603971growth hormonehypophosphatemic ricketsLowe syndromeOCRL1 geneoculocerebrorenal syndromepamidronate |
| spellingShingle | Jia-Woei Hou Amelioration of Hypophosphatemic Rickets and Osteoporosis With Pamidronate and Growth Hormone in Lowe Syndrome Journal of the Formosan Medical Association growth hormone hypophosphatemic rickets Lowe syndrome OCRL1 gene oculocerebrorenal syndrome pamidronate |
| title | Amelioration of Hypophosphatemic Rickets and Osteoporosis With Pamidronate and Growth Hormone in Lowe Syndrome |
| title_full | Amelioration of Hypophosphatemic Rickets and Osteoporosis With Pamidronate and Growth Hormone in Lowe Syndrome |
| title_fullStr | Amelioration of Hypophosphatemic Rickets and Osteoporosis With Pamidronate and Growth Hormone in Lowe Syndrome |
| title_full_unstemmed | Amelioration of Hypophosphatemic Rickets and Osteoporosis With Pamidronate and Growth Hormone in Lowe Syndrome |
| title_short | Amelioration of Hypophosphatemic Rickets and Osteoporosis With Pamidronate and Growth Hormone in Lowe Syndrome |
| title_sort | amelioration of hypophosphatemic rickets and osteoporosis with pamidronate and growth hormone in lowe syndrome |
| topic | growth hormone hypophosphatemic rickets Lowe syndrome OCRL1 gene oculocerebrorenal syndrome pamidronate |
| url | http://www.sciencedirect.com/science/article/pii/S0929664609603971 |
| work_keys_str_mv | AT jiawoeihou ameliorationofhypophosphatemicricketsandosteoporosiswithpamidronateandgrowthhormoneinlowesyndrome |