Diagnosis and management of stenotic aorto-arteriopathy in childhood.

Stenotic aorto-arteriopathy is an uncommon vascular lesion characterized by segmental arterial stenoses. We reviewed the experience with several management algorithms to define the most effective management course. The clinical records of 14 pediatric patients with acquired SAA who presented over a 16-year period were reviewed. Most patients presented with a mid-thoracoabdominal coarctation and were diagnosed with Takayasu arteritis. Differentiating between Takayasu arteritis and fibromuscular dysplasia was difficult on clinical grounds or by angiography. Medical management of the end-organ disease and renovascular hypertension was only palliative. Selective percutaneous transluminal balloon angioplasty of the stenotic renal arteries had only transient benefits; renal autotransplantation had slightly better success. Dilation of stenosed aortic segments with balloon-expandable endovascular stents and subsequent renal autotransplantation proved useful. Distinguishing SAA resulting from fibromuscular dysplasia caused by Takayasu arteritis in the chronic vaso-occlusive phase may be unnecessary for effective treatment. Therapy should focus on interventions to minimize the end-organ damage caused by the vaso-occlusive manifestations of the disorders.

Pseudoporphyria cutanea tarda: two case reports on children receiving peritoneal dialysis and erythropoietin therapy.

Pseudoporphyria cutanea tarda occurred in two children undergoing peritoneal dialysis and receiving erythropoietin therapy. The mechanism whereby erythropoietin might lead to photosensitization is unknown, but physicians should be aware of this possible association.

Angiotensin converting enzyme inhibitor therapy to decrease microalbuminuria in normotensive children with insulin-dependent diabetes mellitus.

It has been proposed that lowering glomerular pressure in children with insulin-dependent diabetes mellitus will reduce microalbuminuria and that this reduction may preserve renal function. We therefore conducted a double-blind, placebo-controlled, crossover trial to compare 3 months of treatment with the angiotensin converting enzyme inhibitor captopril (0.9 mg/kg/day), and 3 months of placebo administration to 12 normotensive adolescents with insulin-dependent diabetes mellitus, 11 with microalbuminuria (albumin excretion rate of 15 to 200 micrograms/min) and one with early overt nephropathy. Mean age (+/- SD) was 14.4 +/- 1.7 years, and disease duration was 5.1 +/- 2.5 years. Albumin excretion rate decreased significantly during captopril therapy (baseline 78 +/- 114 micrograms/min; mean of monthly measurements 38 +/- 55 micrograms/min vs placebo 78 +/- 140 micrograms/min; p less than 0.001). During captopril therapy, albumin excretion was reduced by 41 +/- 44% and decreased in 10 of 12 subjects, but was unchanged in two, one with a borderline albumin excretion rate (16.3 micrograms/min) and one with diabetes of short duration (2.9 years). Plasma renin activity rose significantly during captopril therapy, and mean arterial pressure decreased slightly (placebo 81 +/- 7 mm Hg; captopril 76 +/- 5 mm Hg; p = 0.004). After 3 months of captopril treatment, glomerular filtration rate and renal plasma flow did not change significantly. Hemoglobin Alc values remained stable during the study. The only side effect of captopril was diarrhea in one patient. We conclude that, in the short term, captopril is effective in decreasing albumin excretion rate in normotensive children with insulin-dependent diabetes mellitus and microalbuminuria, without significant side effects. Longer trials are indicated in an attempt to delay or prevent overt nephropathy.

Assessment of glomerular filtration rate and effective renal plasma flow in cystic fibrosis.

A study was conducted to examine renal function in 10 healthy control subjects and eight patients with cystic fibrosis in stable condition. Sequential bolus injections of 99mTc-DTPA and 125I-OIH were administered to assess glomerular filtration rate and effective renal plasma flow, respectively. Blood was subsequently collected for 3 hours, and urine for 24 hours. Renal clearances of both radioisotope markers were virtually identical in patients and controls. Inasmuch as neither glomerular filtration rate nor effective renal plasma flow was enhanced in patients with cystic fibrosis, increased clearance of drugs in these patients is unlikely to be the result of enhanced glomerular filtration or tubular secretion.

Renovascular hypertension in childhood: a changing perspective in management.

Seventeen children with renovascular hypertension caused by intrinsic renal artery lesions received treatment during the past 10 years. At presentation nine were asymptomatic, four had headaches, and one had epistaxis; three infants had anorexia and failure to thrive. Routine intravenous pyelogram and radionuclide renal scan findings were abnormal in 29% and 31% of patients, respectively. Arteriography showed a branch artery stenosis in seven patients and a main artery lesion in 10. A renal vein renin ratio of greater than or equal to 1.5 between the affected and the contralateral kidney was obtained in 10 of 17 patients. Of 16 patients available for follow-up, 15 are normotensive after a mean follow-up of 3.7 years. Cure was achieved by partial nephrectomy and ligation of a stenosed vessel in two and nephrectomy in five (three having undergone an unsuccessful angioplasty procedure). Autotransplantation or angioplasty was curative in a further six. Transluminal balloon angioplasty was attempted in seven patients but was successful in only two with main renal artery stenoses. With preservation of renal parenchyma as the main goal, medical and surgical therapy can be individualized for each patient.

Renal osteodystrophy in children undergoing continuous ambulatory peritoneal dialysis.

Fifteen children undergoing continuous ambulatory peritoneal dialysis for 0.3 to 2.4 years were evaluated longitudinally for renal osteodystrophy. Immunoreactive parathyroid hormone, 25-OHD, total and ionized calcium, inorganic phosphate, and alkaline phosphatase levels were measured regularly. Skeletal radiographic studies were performed at the onset and conclusion of CAPD and at six-month intervals during therapy. All children received 1,25(OH)2D3 and aluminum hydroxide, and nine received supplemental calcium. Plasma 25-OHD concentrations were normal to elevated, and calcium increased steadily to high normal levels despite a trend to persistent hyperphosphatemia. The increased calcium levels suppressed parathyroid hormone overactivity in only one patient. At the onset of CAPD, nine patients had hyperparathyroid bone disease seen radiographically, three of whom also had rachitic lesions. At the end of CAPD, the hyperparathyroid lesions had improved in four patients, completely resolved in three, and deteriorated in two. Rachitic lesions had completely healed in two patients and improved in the third. However, among the six children without radiographically evident lesions at onset of CAPD, hyperparathyroid bone lesions developed in two and rachitic lesions in two others during CAPD. Although CAPD and appropriate therapy benefited most patients with renal osteodystrophy, the benefits were not uniform, and bone lesions deteriorated in some.

Growth in children receiving continuous ambulatory peritoneal dialysis.

Linear growth of 17 children receiving CAPD was compared with growth in 18 patients receiving hemodialysis and 20 who had undergone transplantation, as well as with the previous growth in 11 of the 17 patients. Growth was normal in 10 receiving CAPD, fair in six others, and poor in only one. Growth velocity indexes in those receiving CAPD were significantly better than those of the group receiving hemodialysis (P less than 0.01) but did not differ significantly from those of children who had undergone kidney transplant. All patients grew significantly better after beginning CAPD than before (P less than 0.01). Appropriate management of renal osteodystrophy combined with adequate energy and protein intake were important factors in the growth of patients receiving CAPD.

Indomethacin and renal function in premature infants with persistent patent ductus arteriosus.

Renal function during indomethacin treatment was studied in 12 premature infants with patent ductus arteriosus. Decreases in urinary flow rate, GFR, and CH2O by 56, 27, and 66%, respectively, occurred during Indo therapy. Urinary excretion rates of ions were also reduced: Na by 70%, Cl by 79%, K by 40%. These changes were accompanied by slight decreases in plasma sodium concentration and osmolality. Except for GFR and urinary Na and osmolality, all these functions returned to pretreatment values one to two weeks after stopping the drug.

Acetoacetyl CoA thiolase deficiency: a cause of severe ketoacidosis in infancy simulating salicylism.

A female child presented at one year of age with a febrile illness and loose stools, then developed severe ketoacidosis with vomiting; an apparent salicylate level of 11 mg/dl was measured. A sibling had died in similar circumstances nine years earlier. Investigation revealed that the child did not have salicylate intoxication, and that high levels of acetoacetate in blood and urine were giving readings indicative of the presence of salicylate on routine testing. Gas-liquid chromatographic analysis combined with mass spectrometry on urine samples revealed the presence of 2-methyl-acetoacetate, 2-methyl-3-hydroxybutyrate, and tiglyl glycine in appreciable amounts, indicating a defect in isoleucine catabolism located at the beta-ketothiolase step. The oxidation of 14C-isoleucine to CO2 in cultured fibroblasts confirmed that this pathway was defective. We present evidence that beta-ketothiolase deficiency is not simply a defect of isoleucine degradation; the deficient enzyme is the K+ dependent short-chain mitochondrial thiolase, which also plays a major catalytic role in ketone body and fatty acid oxidation.