1/44. Renal biopsy in the milk-alkali syndrome.In milk-alkali syndrome the degree of renal impairment varies greatly. Few reports have been published describing structural changes on renal biopsy. In three illustrative cases, impairment of renal function was related to morphological changes shown on percutaneous biopsy. milk-alkali syndrome should be considered as a cause of renal dysfunction in patients with a long history of dyspensia.- - - - - - - - - - ranking = 1keywords = syndrome (Clic here for more details about this article) |
2/44. Multiple neonatal endocrinopathies in McCune-Albright syndrome.Two cases of McCune-Albright syndrome (MAS) are reported who presented in the neonatal period with profound failure to thrive, cardio-respiratory distress, precocious puberty and Cushing's syndrome for which both underwent bilateral adrenalectomy. Both girls had also bilateral nephrocalcinosis; in one case that may have been attributed to Cushing's syndrome, but in the second case the cause remained obscure with no obvious abnormality of calcium metabolism. The first girl had hydrocephalus which is uncommon in this condition and the second girl still failed to thrive at the age of 6 years, despite adequate caloric intake and hormonal manipulation. A constellation of other abnormal features are described. These cases illustrate the complexity of MAS which can become a life-threatening or a debilitating disorder.- - - - - - - - - - ranking = 1.1666666666667keywords = syndrome (Clic here for more details about this article) |
3/44. bartter syndrome in a neonate: early treatment with indomethacin.The neonatal form of bartter syndrome is characterized by intrauterine onset of polyuria leading to severe polyhydramnios. We report a patient with the early onset of the syndrome and a similar history in a previous sibling who died in early neonatal life. The patient is a female product of 33 weeks of gestation complicated by severe polyhydramnios. Her birth weight was 2,100 g. polyuria led to severe dehydration on the 3rd day of life. Laboratory studies showed hypokalemia, hyponatremia, and elevated plasma levels of renin and aldosterone. hypercalciuria was associated with echographic evidence of nephrocalcinosis. indomethacin therapy resulted in a significant reduction in urine volume and correction of biochemical abnormalities. growth and development are satisfactory after 4 years of indomethacin therapy, but nephrocalcinosis remains unchanged.- - - - - - - - - - ranking = 1keywords = syndrome (Clic here for more details about this article) |
4/44. rickets in an infant with williams syndrome.calcium homeostasis is altered in patients with williams syndrome. We report an infant in whom williams syndrome was diagnosed at 4 weeks who presented with hypercalcemia, hypercalciuria, and medullary nephrocalcinosis. fluorescence in situ hybridization demonstrated a deletion of the elastin gene on chromosome 7. This infant was treated with a low-calcium/vitamin d-deficient infant formula that resulted in the development of rickets. Replacement of the low-calcium/vitamin d-deficient formula with standard formula led to resolution of the rickets.- - - - - - - - - - ranking = 1keywords = syndrome (Clic here for more details about this article) |
5/44. nephrocalcinosis and renal cysts associated with apparent mineralocorticoid excess syndrome.Apparent mineralocorticoid excess (AME) syndrome is a rare inherited disorder caused by 11beta-hydroxysteroid dehydrogenase (11-HSD 2) isozyme deficiency in the kidney. This enzyme is responsible for oxidizing cortisol to its inactive metabolite cortisone. An elevated tetrahydrocortisol (THF) and allotetrahydrocortisol (aTHF) to tetrahydrocortisone (THE) ratio in the urine is pathognomonic of AME syndrome. Clinical features include hypertension, hypokalemia, alkalosis, reduced plasma renin activity (PRA), low aldosterone levels, and occasionally nephrocalcinosis. Here we describe a 13-year-old boy who presented with severe hypertension, hypokalemia, low PRA and aldosterone levels, and elevated THF plus aTHF/THE ratio in the urine consistent with a diagnosis of AME syndrome. On ultrasound examination, he had severe nephrocalcinosis, and bilateral renal cysts. Renal cysts have not been previously reported in AME syndrome. The development of nephrocalcinosis and renal cysts may be associated with chronic long-standing hypokalemia. An early diagnosis and treatment of AME syndrome could help to prevent these sequelae, and to preserve renal function.- - - - - - - - - - ranking = 1.5keywords = syndrome (Clic here for more details about this article) |
6/44. Hypomagnesemia due to renal disease of unknown etiology.A young man, investigated because of tetanic convulsions and arthritic pains, was shown to have hypomagnesemia, hypermagnesuria, hypokalemia, hypercalciuria, progressive nephrocalcinosis and chondrocalcinosis. In this syndrome, renal function was normal except for the abnormal excretion of electrolytes. Renal sodium conservation was normal. light and electron microscopic studies of renal biopsy specimens showed the presence of several abnormal tubules. Immunofluorescent staining showed deposits of immunoglobulins in the glomeruli and tubules. magnesium therapy was started under balance study conditions and resulted in decreased calciuria and complete remission of subjective symptoms. The progression of nephrocalcinosis was halted, and there was some decrease in the intra-articular calcium deposits after two years of continuous oral magnesium therapy. The administration of spironolactone decreased urinary magnesium but did not normalize it, whereas triamterene administration was without effect in this respect. The results of the morphologic and electrolyte balance studies are discussed. The patient was found to exhibit several features which have not been described before in connection with hypomagnesemia of unknown origin.- - - - - - - - - - ranking = 0.16666666666667keywords = syndrome (Clic here for more details about this article) |
7/44. The syndrome of renal tubular acidosis with nerve deafness.Two brothers with renal tubular acidosis and nerve deafness are described. Studies of the physiopathological characteristics of the renal acidification defect show that the defect is limited to the distal tubule. Renal tubular acidosis with nerve deafness is a distinct nosologic entity that is determined by an autosomal recessive trait.- - - - - - - - - - ranking = 0.66666666666667keywords = syndrome (Clic here for more details about this article) |
8/44. amelogenesis imperfecta and nephrocalcinosis: a new case of this rare syndrome.This article describes a new case of a rare syndrome including enamel agenesis of the primary and permanent dentition, delayed or absent eruption of the permanent dentition, coronal intra-alveolar resorption and gingival enlargement. Renal symptoms include medullary nephrocalcinosis without any apparent cause, and evolution to a renal failure. The early diagnosis provided by the oral symptoms leads to a better renal prognosis. As a consequence, pediatric dentists should be aware of this pathology.- - - - - - - - - - ranking = 0.83333333333333keywords = syndrome (Clic here for more details about this article) |
9/44. Renal hypomagnesemia, hypercalciuria and nephrocalcinosis in a middle-aged man.We report a 41-year-old man with hypomagnesemia, hypercalciuria, nephrocalcinosis, myopia and horizontal nystagmus. The hypomagnesemia was due to primary renal magnesium loss. He was diagnosed as having the syndrome of renal hypomagnesemia, hypercalciuria and nephrocalcinosis. This is a rare condition generally diagnosed by the first to third decades of life. Renal failure is common and end-stage renal disease can occur in children or young adults. The patient was treated with oral magnesium, chlorthalidone, potassium citrate and allopurinol and was followed up for 3 years. Treatment resulted in an improvement in hypercalciuria but serum magnesium level could not be normalized. The patient's renal function remains stable, with a mild degree of renal insufficiency.- - - - - - - - - - ranking = 0.16666666666667keywords = syndrome (Clic here for more details about this article) |
10/44. Two unusual cases of nephrocalcinosis in infancy.nephrocalcinosis is uncommon in childhood, the main causes are renal tubular acidosis, hyperparathyroidism and medullary sponge kidney. It is also seen where there is hypercalcaemia or hypercalciuria of any aetiology; We report nephrocalcinosis in an 18-month-old infant with metaphyseal chondrodysplasia type Jansen and also in a neonate with McCune Albright syndrome who displayed atypical skeletal appearances and had multiple ovarian cysts.- - - - - - - - - - ranking = 0.16666666666667keywords = syndrome (Clic here for more details about this article) |
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