Outcome analysis of pyeloplasty in infants.

The study examined the outcome of pyeloplasties done for decompensated ureteropelvic junction (UPJ) obstruction in infancy over a 13-year period. In a retrospective study, 186 children who underwent pyeloplasty in infancy were analysed with particular emphasis on the pre- and postoperative findings of 123I hippuran scintigraphy/diuretic renograms. The pre- and postoperative management is outlined in detail. The 186 patients underwent a total of 203 pyeloplasties during the period from January 1983 to 31 December 1996. Three children died; one required a nephrectomy. The postoperative scintigrapic results of 156 children (85%) done about 12 months after surgery were available for evaluation: 101 (64%) showed stable renal function and 43 (27%) revealed more than 5% improvement of renal function. In 12 cases (7%) renal function deteriorated after pyeloplasty by more than 5% compared to the preoperative scintigram. It is concluded that pyeloplasty in infants is a low-risk procedure. The encouraging results of this series support early correction of UPJ obstruction.

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.

Townes-Brocks syndrome (TBS, OMIM #107480) is a rare autosomal-dominant malformation syndrome with a combination of anal, renal, limb and ear anomalies. Cytogenetic findings suggested that the gene mutated in TBS maps to chromosome 16q12.1, where SALL1 (previously known as HSAL1), a human homologue of spalt (sal), is located. SAL is a developmental regulator in Drosophila melanogaster and is conserved throughout evolution. No phenotype has yet been attributed to mutations in vertebrate sal-like genes. The expression patterns of sal-like genes in mouse, Xenopus and the fish Medaka, and the finding that Medaka sal is regulated by Sonic hedgehog (Shh; ref. 11), prompted us to examine SALL1 as a TBS candidate gene. Here we demonstrate that SALL1 mutations cause TBS in a family with vertical transmission of TBS and in an unrelated family with a sporadic case of TBS. Both mutations are predicted to result in a prematurely terminated SALL1 protein lacking all putative DNA binding domains. TBS therefore represents another human developmental disorder caused by mutations in a putative C2H2 zinc-finger transcription factor.

Long-term follow-up of children with diaphragmatic hernia.

From 1962 to 1988, 147 neonates were admitted for operative repair of CDH to the Division of Pediatric Surgery in the Children's Hospital of Cologne. Follow-up studies were performed on 45 patients ages 1 to 25 years representing 54.2% of the 83 survivors. 18 patients (40%) were entirely without any complaints, 11 patients (24.4%) had increased rates of respiratory infections. Especially in early childhood they suffered from obstructive alterations in the respiratory tract. No restrictive pulmonary changes were observed. Scintigraphic ventilation tests were performed on 44 cases. 34 (77%) tests indicated absolutely normal results. Some rare local deficits of lung ventilation were based on adhesive anatomic alterations of the thoracic skeleton and the diaphragm. The lung function tests conducted in 29 persons ages 6 to 25 years revealed that the vital capacity and the forced expiratory volume were all normal. We found an increase of the intrathoracic gas volume in 11 infants (disposition to pulmonary inflation). In 9 cases we observed a decrease in the mid expiratory flow curves and in 6 patients we measured an increase in the specific resistance of airways (tendency towards obstructive airway alterations). Nevertheless even former hypoplastic lungs revealed a good extensibility.

[Congenital hypophosphatasia]. / Die kongenitale Hypophosphatasie.

Hypophosphatasia represents an inborn enzymatic deficiency characterized by a reduced activity of alkaline phosphatase in serum and tissue and an increased urinary excretion of phosphoethanolamine. 278 cases have been described until the end of 1980. Based on the age of manifestation and the predominant clinical findings the following classification is possible: The prenatal form (49 cases) with caput membranaceum, skeletal deformities and respiratory distress has a mortality of 100%. The early infantile form (94 cases) shows rickets-like osseous anomalies, dystrophy, craniostenosis, nephrocalcinosis, mortality amounting to 40%. Diagnostic features of the infantile-juvenile form (112 cases) are premature loss of deciduous teeth, bone deformities, rickets-like findings, and short stature. Mortality is only 1%. The adult form (23 cases) often remains undiscovered and has a good prognosis. It presents with pseudofractures and pains in the bones as chief symptoms. Heredity is autosomal recessive in all four types of hypophosphatasia. Possibly in the adult form there is an additional autosomal dominant inheritance. Alkaline phosphatase deficiency affects all tissues excepting the intestinal isoenzyme. Urinary excretion of phosphoethanolamine is elevated. Values for calcium and inorganic phosphorus in serum are usually normal or only slightly increased. Marked hypercalcemia is observed in severely diseased patients affected by the early infantile form. In these cases hypercalcemia often leads to nephrocalcinosis and renal insufficiency. Since alkaline phosphatase is equally active as pyrophosphatase, reduced phosphatase activity induces an accumulation of pyrophosphate in serum and its increased excretion in urine. The precise pathogenetic mechanisms of hypophosphatasia are still unknown. Possibly, the accumulation of pyrophosphate implies a disorder of calcification. Postnatal diagnosis is based on clinical findings in association with decreased alkaline phosphatase activity and increased phosphoethanolamine excretion. For the detection of heterozygotes additional biochemical markers should be tested. These include the determination of alkaline phosphatase in leucocytes and cultured skin fibroblasts, the calculation of tubular phosphate reabsorption and the analysis of pyrophosphate and pyrophosphatases. The difficulty in ascertaining the carrier state is that the measurement of a single parameter may give normal results.(ABSTRACT TRUNCATED AT 400 WORDS)