Dogs with congenital extrahepatic portosystemic shunts that have persistent shunting after surgery have a higher prevalence of urolithiasis.

OBJECTIVE: To report the presence of urolithiasis in dogs long-term after gradual attenuation of congenital extrahepatic portosystemic shunts (cEHPSS). ANIMALS: 25 client-owned dogs that underwent gradual attenuation of a cEHPSS, of which 19 had a closed cEHPSS and 6 developed multiple acquired portosystemic shunts (MAPSS) following surgery. PROCEDURES: A retrospective study with prospective follow-up was performed. Dogs that underwent cEHPSS surgery and had their postoperative cEHPSS status determined by transsplenic portal scintigraphy or CT angiography 3 months postoperatively were prospectively contacted and invited for a long-term follow-up visit (a minimum of 6 months postoperatively). Retrospective data were collected, and during the prospective follow-up visit a thorough history, blood tests and urinalysis, and ultrasonography of the urinary tract were performed to assess the presence of urinary signs and urolithiasis. RESULTS: Of 25 included dogs, 1 of 19 (5%) dogs with closed cEHPSS and 4 of 6 (67%) dogs with MAPSS had urolithiasis at long-term follow-up. Three (50%) dogs with MAPSS developed new uroliths. Long-term, dogs with closed cEHPSS that initially presented with and without urolithiasis had significantly less urolithiasis compared to dogs with MAPSS (P = .013 and P = .010, respectively). In the 4 dogs with closed cEHPSS that initially presented with nephrolithiasis, nephroliths became smaller or were no longer visible at the long-term follow-up visit. CLINICAL RELEVANCE: Dogs that developed MAPSS following cEHPSS surgery are at greater risk of urolithiasis compared to those with closed cEHPSS. Furthermore, ammonium urate uroliths might dissolve if portosystemic shunting ceases to exist.

A Novel Mutation of Glucose Phosphate Isomerase (GPI) Causing Severe Neonatal Anemia Due to GPI Deficiency.

Glucose-6-phosphate isomerase (GPI) deficiency is very rare, but one of the most common erythroenzymopathies, causing hereditary nonspherocytic hemolytic anemia. This case report describes the clinical features and the molecular etiology of a Dutch patient with GPI deficiency. She is the fifth patient with GPI deficiency identified to date in the Netherlands and was found to be compound heterozygous for the previously reported c.1615G>A p.(Asp539Asn) mutation and a novel c.271A>T p.(Asn91Tyr) variant.

Higher Incidence of Hypospadias in Monochorionic Twins.

BACKGROUND: Hypospadias is associated with twinning. The incidence of hypospadias in monochorionic and dichorionic male twins is, however, yet to be determined. METHODS: All medical records of monochorionic and dichorionic twins admitted to our neonatal nursery between January 2004 and August 2013 were reviewed for the presence of hypospadias. RESULTS: A total of 350 monochorionic and 303 dichorionic male twins were included in the study. The incidence of hypospadias in monochorionic and dichorionic groups was 4% (14/350) and 1% (3/303) (p = .016) respectively. In 11 of the 15 twin couples, hypospadias occurred in the twin with the lowest birth weight. The rate of hypospadias in twin infants small-for-gestational-age group was 10% (6/60) compared with 2% (11/593) in the appropriate-for-gestational-age group (p = .002). In a multivariate analysis, both monochorionicity and small-for-gestational-age were independently associated with hypospadias, odds ratio 4.1 (95% confidence interval (CI): 1.1-14.7) and 6.1 (95% CI: 2.2-17.2) respectively. CONCLUSIONS: The incidence of hypospadias is four-fold higher in monochorionic twins compared with dichorionic twins. Hypospadias is also independently associated with small-for-gestational-age.