Title |
Hereditary causes of kidney stones and chronic kidney disease
|
---|---|
Published in |
Pediatric Nephrology, January 2013
|
DOI | 10.1007/s00467-012-2329-z |
Pubmed ID | |
Authors |
Vidar O. Edvardsson, David S. Goldfarb, John C. Lieske, Lada Beara-Lasic, Franca Anglani, Dawn S. Milliner, Runolfur Palsson |
Abstract |
Adenine phosphoribosyltransferase (APRT) deficiency, cystinuria, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), and primary hyperoxaluria (PH) are rare but important causes of severe kidney stone disease and/or chronic kidney disease in children. Recurrent kidney stone disease and nephrocalcinosis, particularly in pre-pubertal children, should alert the physician to the possibility of an inborn error of metabolism as the underlying cause. Unfortunately, the lack of recognition and knowledge of the five disorders has frequently resulted in an unacceptable delay in diagnosis and treatment, sometimes with grave consequences. A high index of suspicion coupled with early diagnosis may reduce or even prevent the serious long-term complications of these diseases. In this paper, we review the epidemiology, clinical features, diagnosis, treatment, and outcome of patients with APRT deficiency, cystinuria, Dent disease, FHHNC, and PH, with an emphasis on childhood manifestations. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 4 | 50% |
United Arab Emirates | 1 | 13% |
Ecuador | 1 | 13% |
Unknown | 2 | 25% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 6 | 75% |
Practitioners (doctors, other healthcare professionals) | 1 | 13% |
Science communicators (journalists, bloggers, editors) | 1 | 13% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Malaysia | 1 | <1% |
United States | 1 | <1% |
Sri Lanka | 1 | <1% |
Unknown | 234 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 35 | 15% |
Student > Ph. D. Student | 25 | 11% |
Other | 23 | 10% |
Student > Master | 19 | 8% |
Researcher | 18 | 8% |
Other | 52 | 22% |
Unknown | 65 | 27% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 96 | 41% |
Biochemistry, Genetics and Molecular Biology | 27 | 11% |
Agricultural and Biological Sciences | 13 | 5% |
Nursing and Health Professions | 10 | 4% |
Engineering | 4 | 2% |
Other | 20 | 8% |
Unknown | 67 | 28% |