Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: Further evidence for a putative gene on 4q
| Autor: | Maurizio Carta, Simona La Placa, Maria Piccione, Mario Giuffrè, Giovanni Corsello, Maria Francesca Marino, Antonella Cataliotti, Ferdinando Meli, Francesco Pusateri |
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| Rok vydání: | 2003 |
| Předmět: |
medicine.medical_specialty
Kidney business.industry Urinary system Parathyroid hormone chemistry.chemical_element Calcium medicine.disease Urinary calcium Endocrinology medicine.anatomical_structure chemistry Calcitonin Internal medicine Genetics medicine Hypercalciuria business Genetics (clinical) Calcification |
| Zdroj: | American Journal of Medical Genetics Part A. :186-190 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.20561 |
| Popis: | We report a newborn girl with a de novo terminal 4q deletion (q31.3 → qter) and a characteristic phenotype of minor facial anomalies, cleft palate, congenital heart defect, abnormalities of hands and feet, and postnatal onset of growth deficiency. Laboratory studies showed excessive urinary calcium excretion on standard milk formula and on oral calcium load. Blood measurements of parathyroid hormone, calcitonin, bicarbonate, calcium, phosphorus, magnesium, sodium, chlorine, potassium, and urinary measurements of phosphorus, magnesium, sodium, chlorine, potassium were normal for age. At 2 months of life, ultrasonography showed kidney calcifications. Clinical and laboratory data support the diagnosis of absorptive hypercalciuria or abnormal regulation of calcium-sensing receptors in the renal tubules. The evidence of hypercalciuria and kidney calcifications associated with 4q terminal deletion strengthens the hypothesis that a putative gene for hypercalciuria is located on the terminal segment of chromosome 4q. © 2003 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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