Successful HLA-identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency.

PNP deficiency is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency, autoimmune hemolytic anemia, and by a complex of neurologic manifestations including ataxia, developmental delay, and spasticity. PNP protein catalyzes the phosphorolysis of deoxyinosine and deoxyguanosine. It is found in most tissues of the body but is expressed at the highest levels in lymphoid tissues. This tissue distribution explains why the lymphoid system is predominantly affected in PNP deficiency. We describe a five-yr-old boy with muscular hypertonia, impaired growth, autoimmune hemolytic anemia, and neutropenia who underwent HSCT from his HLA-identical sister. One yr post-HSCT, the boy developed normal immunological functions, and his neurological status improved.

Early growth acceleration in girls with idiopathic precocious puberty.

OBJECTIVE: To determine the growth pattern of girls with idiopathic precocious puberty (IPP) from birth until diagnosis. STUDY DESIGN: We studied 47 girls with IPP and 35 control girls. In each subject, height and weight were measured at diagnosis, whereas data on height from birth until diagnosis were taken from the personal health book of the patient. Height standard deviation score (HSDS) and body mass index SDS were calculated. RESULTS: Mean age (+/-SD) of the girls with IPP was 7.6 (1.1) years and of control girls was 7.5 (0.9) years. At birth, HSDS of the patients with IPP was -0.01 (0.8); at the age of 2 years, 0.42 (1.2); at the age of 4 years, 0.64 (1.1); and at diagnosis, 1.23 (1.7) (P < .001). HSDS of control girls was 0.02 (0.8) at birth, 0.25 (0.8) at 2 years, 0.12 (0.9) at 4 years, and 0.19 (1.1) at assessment (P > .05). There was no statistical difference between body mass index SDS of the patients 0.6 (1.1) versus that of control girls 0.5 (1.0). CONCLUSIONS: The early growth acceleration pattern may be used as an additional clue to the diagnosis of idiopathic precocious puberty.

Urinary excretion of endothelin-1 in children with absorptive idiopathic hypercalciuria.

Urinary excretion of endothelin-1 (ET-1) and plasma ET-1 were measured in 21 children with absorptive idiopathic hypercalciuria (AIH) and 22 controls. The absorptive type of idiopathic hypercalciuria was determined by a calcium loading test. Daily urinary excretion of ET-1 and urinary ET-1/creatinine ratio were significantly increased ( P=0.005 and P=0.007, respectively) in patients with AIH (9274+/-6444 pg/24 h and 14.04+/-9.52 pg/mg, respectively) compared with controls (4699+/-2120 pg/24 h and 7.36+/-4.71 pg/mg, respectively). Plasma ET-1 levels were significantly lower in patients with AIH (0.84+/-0.64 pg/ml) than in controls (1.54+/-0.54 pg/ml, P=0.0001). In conclusion, patients with AIH had increased urinary ET-1 excretion and decreased plasma ET-1 levels. This is most likely due to the decreased reabsorption of ET-1 in the renal tubule and increased renal production.

Endothelin-1 in children with acute poststreptococcal glomerulonephritis and hypertension.

BACKGROUND: Endothelin-1 (ET-1), the most potent vasoconstrictor peptide, is known to play a role in arterial hypertension. In patients with acute poststreptococcal glomerulonephritis (APSGN) an increase in the production of ET-1 is suspected due to damaged endothelium, platelet activation and increased thrombin production in the glomeruli. The aim of the present study was to investigate whether the levels of plasma ET-1 are elevated in children with APSGN. Furthermore, we examined the association between plasma ET-1 levels and blood pressure levels in the same children. METHODS: We studied 18 children (14 boys) with APSGN (mean age 7.44 to approximately 2.82 years). Fourteen healthy children served as controls. The following parameters were evaluated: plasma ET-1, plasma atrial natriuretic peptide (ANP), plasma renin (Rn), serum aldosterone (Aldo), creatinine clearance (Ccr) and fractional excretion of sodium (FENa). RESULTS: The mean plasma ET-1 concentrations were higher in patients with APSGN (3.39 to approximately 1.86 pg/mL) compared to controls (1.40 to approximately 0.15 pg/mL; P=0.0001). Patients with APSGN also had higher plasma ANP concentrations (41.67 to approximately 27.99 pg/mL) than the controls (22.80 to approximately 4.24 pg/mL; P=0.011). Plasma Rn concentrations were lower in patients (24.54 to approximately 16.34 microU/mL) compared to controls (56.76 to approximately 32.36 microU/mL; P=0.027). A positive correlation was found between ET-1 plasma concentrations and the height of systolic or diastolic blood pressure (r=0.57, P=0.013 and r=0.53, P=0.023, respectively). CONCLUSIONS: Our results suggest that increased plasma ET-1 concentrations may play an important role in the pathogenesis of hypertension in children with acute poststreptococcal glomerulonephritis.

Persistent hyperinsulinemic neonatal hypoglycemia caused by focal nesidioblastosis. Preoperative diagnosis by pancreatic venous sampling.

A female infant with persistent hyperinsulinemic hypoglycemia is described. Persistent euglycemia could not be achieved by diazoxide, somatostatin and frequent, low protein feeds. Preoperative localization of focal insulin hypersecretion by percutaneous pancreatic venous sampling allowed excision of only a small pancreatic portion which was followed by normalization of blood glucose levels.

Pseudohypoparathyroidism type Ia and growth hormone deficiency. Growth hormone releasing hormone receptor defect?

We report a boy with pseudohypoparathyroidism (PHP), hypothyroidism and low growth hormone (GH) values with no response to growth hormone releasing hormone (GHRH). He presented at age 17 mo because of developmental delay. He had the typical features (short stature, obesity, round face, brachydactyly) of Albright's hereditary osteodystrophy (AHO) and the biochemical profile of PHP; low serum calcium and high phosphate, raised parathormone (PTH) values and lack of response of urinary phosphate and cyclic AMP to PTH administration. The serum total thyroxine value (T4) was 37.32 nmol/L and the thyroid stimulating hormone (TSH) 29 mU/L. Peak GH values during two provocative tests (Glucagon, L-Dopa) were <2.5 microg/L and <1.7 microg/L, respectively, while following GHRH administration the maximum GH value was 0.2 microg/L. The IGFI value was 65 ng/ml and rose to 253 ng/ml after GH administration for three days. This boy had PTH and TSH receptor defect and we speculate that he also has GHRH receptor defect.