Renal Disease
Praveen S. Goday, Cassandra L. S. Walia in Pediatric Nutrition for Dietitians, 2022
In renal tubular acidosis, nutrition therapy may include similar nutrition therapies as seen in nephrolithiasis. Rare disorders like Bartter’s syndrome and Gitelman syndrome may require high amounts of electrolyte supplementation including that of sodium, chloride, potassium, and magnesium. In nephrogenic diabetes insipidus, nutrition therapy focuses on prevention of hypernatremia due to impaired water reabsorption in the kidney. Avoidance of excessive intake of solutes (primarily sodium and protein) that may increase water/urine excretion is important. Water supplementation via tube feedings is often necessary due to the high total fluid volumes (150–200 mL/kg per day) required to maintain adequate serum sodium levels. Growth can also be challenging as fluid intake may displace nutrient intake for oral feeders.
Hyperkinetic Movement Disorders
Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw in Hankey's Clinical Neurology, 2020
Second decade (∼40%): Primarily neurological symptoms (silent cirrhosis).Movement disorders: dystonia, parkinsonism, chorea, myoclonus.Rubral (midbrain) tremor, “wing beating,” rest, postural, intention tremor.Bulbar symptoms early and prominent.Psychiatric (psychosis, depression).Cognitive decline.Articular and muscular symptoms: arthritis, proximal weakness.Renal tubular acidosis.
Prenatal and Genetic Magnesium Deficiency in Cardiomyopathy: Possible Vitamin and Trace Mineral Interactions
Fima Lifshitz in Childhood Nutrition, 2020
Patterns of Hereditary Renal Magnesium Wasting—Three types of hereditary renal hypomagnesemia have been suggested:43 an autosomal dominant pattern of inheritance is believed to be present in patients with isolated familial hypomagnesemia; an autosomal recessive trait has been suggested in familial hypomagnesemia caused by a low renal magnesium threshold that is associated with hypokalemia, metabolic alkalosis, hypocalciuria, and moderate salt wasting; and familial hypomagnesemic hypercalciuria, caused by a defect in absorption of both magnesium and calcium at the ALLH, with renal calcinosis, also may be inherited as an autosomal recessive trait. This condition has not been clearly separated from hereditary distal renal tubular acidosis. A form of hypomagnesemic hypokalemia that may be transmitted by an autosomal recessive gene has been described in a young son of a woman suffering from chronic hypomagnesemia.57 He had no symptoms of his subnormal magnesium and potassium serum levels, other than carpopedal spasms, that were not relieved by magnesium or potassium therapy. This defect was postulated to be caused by inability to maintain a normal gradient between intra- and extracellular magnesium and potassium.
Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children
Published in Renal Failure, 2018
Jiaojiao Liu, Qian Shen, Guomin Li, Yihui Zhai, Xiaoyan Fang, Hong Xu
Renal tubular acidosis (RTA) is a clinical syndrome resulting from renal tubular failure of acid secretion and/or bicarbonate reabsorption that leads to metabolic acidosis with a normal anion gap (hyperchloraemic). RTA can represent a primary or secondary defect. Primary defects are common in children due to gene mutations or the idiopathic nature of the syndrome, whereas secondary defects are more common in adults. RTA is classified into the following four types based on the clinical features: distal renal tubular acidosis (type I), proximal renal tubular acidosis (type II), combined proximal and distal renal tubular acidosis (type III), and hyperkalaemic renal tubular acidosis (type IV) [1]. Primary dRTA is an inherited disorder caused by mutations in at least three genes (SLC4A1, ATP6V0A4, and ATP6V1B1) [2]. Both autosomal-dominant and autosomal-recessive forms of dRTA have been described.
Established and recent developments in the pharmacological management of urolithiasis: an overview of the current treatment armamentarium
Published in Expert Opinion on Pharmacotherapy, 2020
Mohamed Abou Chakra, Athanasios E. Dellis, Athanasios G. Papatsoris, Mohamad Moussa
Nephrolithiasis, which may occur in any of the subsets of type I renal tubular acidosis, accounts for most of the morbidity in adults and adolescents. Major risk factors in this case include alkaline urine, hypercalciuria, and hypocitraturia. The most frequently occurring risk factor, hypocitraturia, is due to decreased filtered load and/or to increased tubular reabsorption of filtered citrate. While increased tubular reabsorption may be due to systemic acidosis, hypocitraturia occurs in incomplete renal tubular acidosis. Furthermore, alkali therapy increases citrate excretion in complete and incomplete type I renal tubular acidosis. Potassium citrate appears to reduce calcium excretion in both types of hypercalciuric type I renal tubular acidosis [105].
Pediatric primary calcific band keratopathy with or without glaucoma from biallelic SLC4A4 mutations
Published in Ophthalmic Genetics, 2018
Proximal renal tubular acidosis, an impairment of bicarbonate (HCO3−) reabsorption in the proximal renal tubules, can be a transient isolated phenomenon in young children. When permanent, it is usually one of multiple defects in proximal renal tubular function (Fanconi syndrome) that can be secondary to a variety of systemic diseases. Permanent proximal renal tubular acidosis without other proximal tubular dysfunction is a rare phenomenon (3). In 1970 Donckerwolcke and colleagues described such a case in a 20-month-old girl (4). In addition to having permanent proximal renal tubular acidosis, she was developmentally delayed (small for age and hypotonic) and had progressive band keratopathy. Several years later Wisnes and colleagues described a familial form of proximal renal tubular acidosis with co-existent developmental delay and ocular findings (corneal opacities, glaucoma, cataract) (5). In 1999 Igarashi and colleagues demonstrated that this phenotype is caused by biallelic mutations in SLC4A4 (6), and since then several additional cases confirmed to harbor biallelic mutations in the gene have been published (7). SLC4A4 encodes a Na+/HCO3– cotransporter that has prominent function in the proximal renal tubule and corneal endothelium. Mutations in SLC4A4 lead to increased HCO3– in the corneal stroma, which facilitates Ca2+ deposition and thus primary calcific band keratopathy. In addition, the disruption of ion balance in the aqueous humor from mutations in the gene likely contributes to the development of glaucoma and, as described in some case reports, cataract.
Related Knowledge Centers
- Acid
- Bladder
- Metabolic Acidosis
- Nephron
- Ultrafiltration
- Urine
- Blood
- Kidney
- Renal Physiology
- Salt