Biomaterial Database

Severe rickets in Lowe syndrome: treatment with continuous nasogastric infusion. 1991

V A Redfield, and F Mimouni, and F C Strife, and R C Tsang

Department of Pediatrics, Children's Hospital Medical Center, University of Cincinnati College of Medicine, OH 45267-0541.

A boy with Lowe syndrome who manifested renal Fanconi syndrome by severe hypophosphatemic rickets, failure to thrive, and metabolic acidosis failed to improve with conventional bolus therapy of phosphate and bicarbonate. He was then placed on home continuous nasogastric infusion of phosphate and bicarbonate in addition to caloric supplementation. Rapid reversal of metabolic acidosis and hypophosphatemia was achieved. There was significant improvement in clinical and radiological signs of rickets and in bone mineral content. After 9 months therapy, his ponderal age improved dramatically from 7.5 to 29.5 months and his statural age from 16 to 26 months. We conclude that continuous nasogastric infusion of phosphorus and bicarbonate is a useful alternative mode of therapy in patients with renal Fanconi syndrome who are resistant to conventional bolus therapy.

UI	MeSH Term	Description	Entries
D007263	Infusions, Parenteral	The administration of liquid medication, nutrient, or other fluid through some other route than the alimentary canal, usually over minutes or hours, either by gravity flow or often by infusion pumping.	Intra-Abdominal Infusions,Intraperitoneal Infusions,Parenteral Infusions,Peritoneal Infusions,Infusion, Intra-Abdominal,Infusion, Intraperitoneal,Infusion, Parenteral,Infusion, Peritoneal,Infusions, Intra-Abdominal,Infusions, Intraperitoneal,Infusions, Peritoneal,Intra Abdominal Infusions,Intra-Abdominal Infusion,Intraperitoneal Infusion,Parenteral Infusion,Peritoneal Infusion
D007441	Intubation, Gastrointestinal	The insertion of a tube into the stomach, intestines, or other portion of the gastrointestinal tract to allow for the passage of food products, etc.	Intubation, Nasogastric,Gastrointestinal Intubation,Gastrointestinal Intubations,Intubations, Gastrointestinal,Intubations, Nasogastric,Nasogastric Intubation,Nasogastric Intubations
D008297	Male		Males
D009800	Oculocerebrorenal Syndrome	A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)	Cerebrooculorenal Syndrome,Lowe Syndrome,Cerebro-Oculo-Renal Syndrome,Lowe Disease,Lowe Oculocerebrorenal Syndrome,Lowe-Bickel Syndrome,Lowe-Terrey-MacLachlan Syndrome,Oculocerebrorenal Dystrophy,Oculocerebrorenal Syndrome of Lowe,Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency,Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency,Renal-Oculocerebrodystrophy,Cerebro Oculo Renal Syndrome,Deficiency, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase,Dystrophy, Oculocerebrorenal,Lowe Bickel Syndrome,Lowe Terrey MacLachlan Syndrome,Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency,Renal Oculocerebrodystrophy
D010710	Phosphates	Inorganic salts of phosphoric acid.	Inorganic Phosphate,Phosphates, Inorganic,Inorganic Phosphates,Orthophosphate,Phosphate,Phosphate, Inorganic
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D005198	Fanconi Syndrome	A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is usually characterized by the tubular wasting of nutrients and salts (GLUCOSE; AMINO ACIDS; PHOSPHATES; and BICARBONATES) resulting in HYPOKALEMIA; ACIDOSIS; HYPERCALCIURIA; and PROTEINURIA.	De Toni-Debre-Fanconi Syndrome,Lignac-Fanconi Syndrome,Proximal Renal Tubular Dysfunction,Renal Fanconi Syndrome,Adult Fanconi Syndrome,Fanconi Bickel Syndrome,Fanconi Renotubular Syndrome,Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance,Fanconi Syndrome without Cystinosis,Fanconi-Bickel Syndrome,Glycogen Storage Disease XI,Glycogenosis, Fanconi Type,Hepatic Glycogenosis with Amino Aciduria and Glucosuria,Hepatic Glycogenosis with Fanconi Nephropathy,Hepatorenal Glycogenosis with Renal Fanconi Syndrome,Idiopathic De Toni-Debre-Fanconi Syndrome,Luder-Sheldon Syndrome,Neonatal De Toni-Debre-Fanconi Syndrome,Primary Toni-Debre-Fanconi Syndrome,Pseudo-Phlorizin Diabetes,Toni-Debre-Fanconi Syndrome,Bickel Syndrome, Fanconi,Diabete, Pseudo-Phlorizin,Diabetes, Pseudo-Phlorizin,Fanconi Syndrome, Adult,Fanconi Syndrome, Renal,Fanconi Type Glycogenosis,Fanconi-Bickel Syndromes,Lignac Fanconi Syndrome,Luder Sheldon Syndrome,Pseudo Phlorizin Diabetes,Pseudo-Phlorizin Diabete,Renotubular Syndrome, Fanconi,Syndrome, Adult Fanconi,Syndrome, Fanconi,Syndrome, Fanconi Bickel,Syndrome, Fanconi Renotubular,Syndrome, Fanconi-Bickel,Syndrome, Lignac-Fanconi,Syndrome, Luder-Sheldon,Syndrome, Renal Fanconi,Syndromes, Fanconi-Bickel
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000138	Acidosis	A pathologic condition of acid accumulation or depletion of base in the body. The two main types are RESPIRATORY ACIDOSIS and metabolic acidosis, due to metabolic acid build up.	Metabolic Acidosis,Acidoses,Acidoses, Metabolic,Acidosis, Metabolic,Metabolic Acidoses
D001639	Bicarbonates	Inorganic salts that contain the -HCO3 radical. They are an important factor in determining the pH of the blood and the concentration of bicarbonate ions is regulated by the kidney. Levels in the blood are an index of the alkali reserve or buffering capacity.	Bicarbonate,Bicarbonate Ions,Hydrogen Carbonates,Bicarbonate Ion,Carbonic Acid Ions,Hydrogen Carbonate,Carbonate, Hydrogen,Carbonates, Hydrogen,Ion, Bicarbonate,Ions, Bicarbonate,Ions, Carbonic Acid