Complications documented were end-stage renal disease (n 1) and hyperuricemia (n 4), novel findings possibly associated with CLD being male subfertility (n 3), spermatoceles (n 3), intestinal inflammation (n 2), inguinal hernias (n 4) and increased concentrations [ncbi.nlm.nih.gov]

Complications documented were end-stage renal disease ( n 1) and hyperuricemia ( n 4), novel findings possibly associated with CLD being male subfertility ( n 3), spermatoceles ( n 3), intestinal inflammation ( n 2), inguinal hernias ( n 4) and increased [doi.org]

hernias, spermatoceles and male subfertility are possible. [2,8] Hence we conclude that careful evaluation of the differential diagnosis on ultrasound can help point towards such life threatening rare neonatal disorders. [jpgo.org]

Enuresis, slight soiling and hospitalizations for gastroenteritis were common, especially in childhood, but 92% of the patients found their health excellent or good. [ncbi.nlm.nih.gov]

History of polyhydramnios, watery diarrhea, failure to thrive, poor growth, soiling, metabolic alkalosis and hypokalemia/hypochloremia should be an alarming set of findings for the diagnosis. [ncbi.nlm.nih.gov]

“Rapid correction of metabolic alkalosis in hypertrophic pyloric stenosis with intravenous cimetidine: preliminary results”. Pediatr Surg Int 2009. vol. 25. Mar. pp. 269-71. [clinicaladvisor.com]

Chun Woo Lim, Heung Keun Park, Jung-Sook Yeom, Taejin Park, Ji Sook Park, Eun-Sil Park, Ji-Hyun Seo, Jae Young Lim, Chan-Hoo Park, Hyang-Ok Woo and Hee-Shang Youn, A Natural Course of an Infantile Hypertrophic Pyloric Stenosis without Adequate Surgical [doi.org]

It is characterized by chronic, watery diarrhea with a high fecal chloride concentration, hyponatremia, hypokalemia, and hypochloremic metabolic alkalosis. [ncbi.nlm.nih.gov]

After delivery by cesarean section for hydramnios, she excreted profuse watery yellow green stools with marked abdominal distension. At 4 months of age, hypochloremia, hyponatremia and a high concentration of chloride in the stool were identified. [ncbi.nlm.nih.gov]

As the patient has normal stature, it is likely that the paternal chromosome 7 lacks the suggested maternal imprinting effect on growth. Paternal isodisomy for human chromosome 7 may have no phenotypic effect on growth. [ncbi.nlm.nih.gov]

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. J Med Genet 36 : 621–624, 1999. ISI Google Scholar 111 Taylor CJ, Aswani N. The pancreas in cystic fibrosis. [doi.org]

The main feature of the renal injury was nephrocalcinosis, without hypercalciuria or nephrolithiasis with small sized kidneys and commensurately reduced glomerular filtration rates. [ncbi.nlm.nih.gov]

Manoocher Soleimani, The role of SLC26A6‐mediated chloride/oxalate exchange in causing susceptibility to nephrolithiasis, The Journal of Physiology, 586, 5, (1205-1206), (2008). [doi.org]

According to past reports, the main feature of the renal injury is known as nephrocalcinosis, which is caused by urine supersaturation and crystal precipitation, with no hypercalciuria or nephrolithiasis [ 7 ]. [chikd.org]

Impaired mucus-bicarbonate barrier in Helicobacter pylori-infected mice. Am J Physiol Gastrointest Liver Physiol 291 : G396–G403, 2006. [doi.org]