1/158. 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. ( info) |
2/158. 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. ( info) |
3/158. Hypotensive ischemic optic neuropathy and peritoneal dialysis. PURPOSE: To report anterior ischemic optic neuropathy associated with systemic hypotension in a patient undergoing continuous ambulatory peritoneal dialysis. methods: Case report. A 58-year-old man undergoing continuous ambulatory peritoneal dialysis developed painless blurred vision in both eyes and bilateral optic disk swelling with an altitudinal field defect in the left eye. Twenty-four-hour ambulatory blood pressure monitoring was requested in addition to other routine investigations. RESULTS: Routine blood pressure measurement in the clinic was 130/86 mm Hg, but ambulatory blood pressure monitoring demonstrated pronounced early morning hypotension with individual readings as low as 91/41 mm Hg. CONCLUSIONS: renal dialysis can render patients hypotensive, and this may be associated with anterior ischemic optic neuropathy. The overnight drop in blood pressure may not be appreciated with routine blood pressure measurement. Therefore, 24-hour ambulatory blood pressure monitoring should be considered when investigating patients with suspected anterior ischemic optic neuropathy who are undergoing renal replacement. ( info) |
| 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. ( info) |
| 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. ( info) |
6/158. Growth and metabolic disturbances in a patient with total parenteral nutrition: a case of hypercalciuric hypercalcemia. hypercalciuria is a common side effect during total parenteral nutrition (TPN). We report a patient with long-term TPN, who demonstrated hypercalciuria, hypercalcemia and growth retardation. The patient is a six-year-old Japanese girl with hirschsprung disease (jejunal agangliosis). jejunostomy was performed at one-month old and since then her nutrition has depended mostly on TPN. When she was 3 years old, continuous TPN was switched to cyclic TPN (on TPN for 11 hrs and off TPN for 13 hrs). The urinary calcium level has been elevated (Ca/Cre ratio, 1.0) since 3 months of age, whereas serum calcium levels stayed within normal range for a while. The serum calcium levels started to elevate to 12 to approximately 13 mg/dl when she was 3 years and 8 months old. She showed growth retardation (height SD score was -4.2SD when she was 5 years and 8 months old) and deteriorated renal tubular function with renal glycosuria, elevated beta 2-microglobulin (beta2-MG) and N-acetyl-beta-D-glucosaminidase. She was referred to our division for the investigation and treatment of growth disturbance and Ca metabolism. Her bone age was delayed (BA/CA 0.62) and serum IGF-I level was decreased but her GH response to provocation test was normal. Bilateral nephrocalcinosis was revealed by renal echogram and CT scan. By reducing calcium content in TPN solution, the serum and urinary calcium levels could be maintained within normal range and her renal function and growth velocity was improved. ( info) |
7/158. Endourologic treatment of nephrocalcinosis. Calcifications of the kidney may be located free within the collecting system, attached to a papilla, trapped beneath the urothelium, or sequestered in the renal parenchyma. Extracorporeal shock wave lithotripsy has failed to render patients who presented with nephrocalcinosis stone free because of the submucosal location of some of the calculi. We report a unique case of symptomatic nephrocalcinosis in which the patient was rendered stone free using flexible ureteroscopy and intrarenal laser and electrohydraulic lithotripsy to treat both the attached and submucosal papillary calculi. ( info) |
8/158. 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. ( info) |
| nephrolithiasis secondary to primary hyperparathyroidism infrequently complicates pregnancy. It can cause severe maternal and fetal complications. We present a case of a pregnant woman with nephrolithiasis and primary hyperparathyroidism. We reviewed the management of nephrolithiasis due to primary hyperparathyroidism during pregnancy. We believe that early recognition and timely intervention can significantly reduce the incidence of complications. ( info) |
| Familial hypomagnesemia-hypercalciuria with nephrocalcinosis and renal insufficiency in childhood is a rarely described disease. Two siblings of consanguineous Tunesian parents (first cousins), a 2-year-old boy and a 4-year-old girl presented with renal insufficiency and severe bilateral nephrocalcinosis. Both were found to have decreased serum and intracellular magnesium concentrations, increased urinary excretion of magnesium and calcium, mild glomerular and severe tubular proteinuria and low citrate excretion in urine. Pathological biochemical findings and the severity of nephrocalcinosis of the boy compared to findings of the sister were strongly marked, histology of the boy's kidney showed severe medullary nephrocalcinosis, tubular atrophy, focal lymphoplasmacellulary infiltration, focal cortical fibrosis, immature glomerula, segmental and global glomerulosclerosis. Subsequent mutation analysis revealed a homozygous frameshift mutation in the gene paracellin-1 in both affected individuals. Therapy consisted of sodium bicarbonate, cholecalciferol, calcitriol, hydrochlorothiazide, citrate salts and oral magnesium administration. hypercalciuria decreased in both children by therapy with thiazide diuretics, but hypomagnesemia was unresponsive to magnesium administration. After a 32-month follow-up the boy commenced hemodialysis at the age of 5 years, whereas his sister showed no decline in renal function. ( info) |