Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis.

Diffuse mesangial sclerosis occurs as an isolated abnormality or as a part of a syndrome. Recently, mutations in phospholipase C epsilon 1 (PLCE1) were found to cause a nonsyndromic, autosomal recessive form of this disease. Here we describe three children from one consanguineous kindred of Pakistani origin with diffuse mesangial sclerosis who presented with congenital or infantile nephrotic syndrome. Homozygous mutations in PLCE1 (also known as KIAA1516, PLCE, or NPHS3) were identified following genome-wide mapping of single-nucleotide polymorphisms. All affected children were homozygous for a four-basepair deletion in exon 3, which created a premature translational stop codon. Analysis of the asymptomatic father of two of the children revealed that he was also homozygous for the same mutation. We conclude this nonpenetrance may be due to compensatory mutations at a second locus and that mutation within PLCE1 is not always sufficient to cause diffuse mesangial sclerosis.

Single laser incision for treatment of congenital bladder neck sclerosis: new technique.

INTRODUCTION: The primary bladder neck obstruction (PBNO) has been recognized in 41-45% of young men suffering from a chronic lower urinary tract symptom (LUTS). Few studies are published in the literature about the use of laser devices in the surgical treatment of PBNO and none about the use of Thulium laser. The aim of our study is to report the results of our follow-up in the endoscopic treatment of PBNO with Thulium laser. MATERIALS AND METHODS: From January 2012 to January 2015, we treated 214 patients using Thulium laser for primary bladder neck sclerosis. All patients had symptoms suggestive of LUTS or prostatism: filling or irritative symptoms and voiding or obstructive symptoms. In 157 patients, the incision was performed unilaterally at 7 o'clock of the bladder neck. In 57 cases, bilateral incision was performed at 5 and 7 o' clock without vaporizing the tissue between the two incisions. We chose to make the incision bilaterally in cases wherein a single incision was not enough to solve the obstruction from the bladder neck and prevent a recurrence. Bladder irrigation was used overnight in all cases, and the catheter was removed after 24 hours. RESULTS: One hundred ninety-six patients enrolled completed 1-year follow-up: 157 patients underwent unilaterally incision and 39 bilateral incision. In 179 cases (91.3%), there was unchanged antegrade ejaculation, while reduced semen volume was reported by 14 men (7.1%) and retrograde ejaculation by only 3 (1.5%), but these patients underwent bilateral incision. The quality of orgasm and sexual satisfaction was not permanently changed by the operation. CONCLUSIONS: In patients with PBNO, it is possible to perform endoscopic treatment with Thulium laser that we think is an effective and safe procedure, not affecting sexual functioning and particularly retrograde ejaculation.

Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: an X-linked disorder?

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by hypertelorism, macrocephaly, frontal bossing, broad nasal bridge, palate anomalies, hearing deficits, and mental retardation. The radiographic findings include cranial sclerosis, linear striations in the long bones and iliac wings, small poorly aerated sinuses, scoliosis, and increased bone density. The sensory deficits are disabling, but the condition generally is not life threatening. We describe 4 brothers with the characteristics of OS-CS, 3 of whom have died from more serious complications of the disorder. The mother of these children, and her only daughter, have the mildest phenotype with the typical linear striations in the long bones and macrocephaly. OS-CS is thought to be autosomal dominant with complete penetrance and variable expressivity. Our observations could be consistent with X-linkage, since there is milder expression in the female relatives. In addition, we recognize absent fibulae, malrotation, and omphalocele as new manifestations as well as congenital heart disease.

Intussusception in two pediatric patients associated with nephrotic syndrome.

We report two cases of intussusception in two Jordanian boys during a relapse of nephrotic syndrome. The first patient had minimal change disease and the second patient had diffuse mesangial sclerosis. The most prominent symptom was abdominal pain, but the other classic sign of currant jelly stool was absent. In spite of the fact that both patients could have had other causes of abdominal pain, intussusception was suspected and confirmed by ultrasound and was treated successfully. Intussusception should be considered in the differential diagnosis in nephrotic patients presenting with abdominal pain.