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Familial hypomagnesemia and hypercalciuria with nephrocalcinosis is a rare autosomal recessive disease characterized by renal calcium and magnesium wasting, evolving in the progressive decrease of renal function, eventually requiring kidney transplant. Clinical findings include urinary infection, polyuria, polydipsia, cramps, tremors, convulsions, among others; these, asociated to ocular and/or auditive abnormalities. We present a 4 year-old female with the syndrome, which was manifested by typical signs and symptoms in daily practice: fever, abdominal pain, polyuria and polydipsia. These symptoms may defer the diagnosis of the syndrome.
Servicio de Clínica Pediátrica, Hospital General de Niños Pedro de Elizalde.
This article was published in the following journal.
Name: Archivos argentinos de pediatria
Mutations of the CYP24A1 gene, encoding for the enzyme 25(OH)D-24-hydroxylase, can cause hypercalcemia, hypercalciuria, nephrolithiasis and nephrocalcinosis. We report the case of a 22-year-old male p...
Gitelman syndrome(GS) is a rare inherited tubular disorder which is characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. Here, we report a case of schizophrenia-like p...
Magnesium is an important electrolyte for very many cell functions and its deficiency may lead to a wide spectrum of diseases. We report a clinical case of hypomagnesemia resulting from the chronic us...
Introduction. Buschke-Ollendorf syndrome (BOS) is an uncommon syndrome characterized by osteopoikilosis and other bone abnormalities, accompanied by skin lesions, most frequently connective tissue nev...
Fragile X syndrome (FXS), one of the manifestations of FMR1-related disorders, is one of the most frequent genetic causes of intellectual disability. In over 99% of all cases it results from the expan...
Preterm infants are at risk to develop nephrocalcinosis. Incidence numbers vary according to birth weight and gestation age. Very low birth weight infants have the highest risk index, with...
The aim of this study is to know the difference between protein profiles (multi-analyte profile) of PH1 patients, idiopathic hypercalciuria (IH) patients and PH1 patients 'siblings. Idiopa...
RATIONALE: Screening for early pancreatic neoplasia may improve the ability to detect cancer in people who have a genetic risk for pancreatic cancer. PURPOSE: Phase I trial to study the e...
Familial hypercholesterolemia (FH) is a most prevalent genetic disorder, defines as high cholesterol level and premature death. The prevalence of FH has been reported in few countries howe...
Clinical Case report Of spontaneous esophageal perforation in a 75 year old man. He prsented with breathlessness and on investigation found to have esophageal perforation
An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
X-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene.
A condition characterized by calcification of the renal tissue itself. It is usually seen in distal RENAL TUBULAR ACIDOSIS with calcium deposition in the DISTAL KIDNEY TUBULES and the surrounding interstitium. Nephrocalcinosis causes RENAL INSUFFICIENCY.
Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.
A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is usually characterized by the tubular wasting of nutrients and salts (GLUCOSE; AMINO ACIDS; PHOSPHATES; and BICARBONATES) resulting in HYPOKALEMIA; ACIDOSIS; HYPERCALCIURIA; and PROTEINURIA.
Within medicine, nutrition (the study of food and the effect of its components on the body) has many different roles. Appropriate nutrition can help prevent certain diseases, or treat others. In critically ill patients, artificial feeding by tubes need t...
Nephrology - kidney function
Nephrology is a specialty of medicine and pediatrics that concerns itself with the study of normal kidney function, kidney problems, the treatment of kidney problems and renal replacement therapy (dialysis and kidney transplantation). Systemic conditions...