Presentation
Defects in the calcium-sensing receptor gene: Presents as hypocalcaemia, inappropriately normal levels of PTH and raised phosphate levels. This is not true hypoparathyroidism but its presentation mimics it. Can present from birth to adulthood. [patient.info]
Rickets of the spine or pelvis, dental enamel defects, and tetany that occur in dietary vitamin D deficiency are rarely present in hypophosphatemic rickets. Patients with HHRH may present with nephrolithiasis and/or nephrocalcinosis. [msdmanuals.com]
According to the results of present study showed that 42% of patients were suffering from nutritional rickets which was the majority among patients. [alliedacademies.org]
In patients with stone disease, presenting symptoms were those associated with nephrolithiasis and skeletal problems were generally absent. Albright questioned why there should be two separate presentations for the same disease. [revistanefrologia.com]
Entire Body System
- Fever
This text covers the changes in mineral metabolism at parturition; factors predisposing dairy cows to parturient paresis; cause of paresis in milk fever; and downer syndrome in dairy cows. [books.google.de]
Musculoskeletal
- Myopathy
[…] disorders (E70-E88) Disorders of mineral metabolism (E83) E83.39 Other disorders of phosphorus metabolism Code Version: 2019 ICD-10-CM Synonyms Acid phosphatase deficiency Acquired hypophosphatemia Adult hypophosphatasia Childhood hypophosphatasia Chronic myopathy [healthprovidersdata.com]
Clinical findings are similar to those of nutritional rickets, but without proximal myopathy. These patients usually have high bone density. As hypophosphatemia is usually clinically evident at a later age, infantile skull defects are not apparent. [emedicine.medscape.com]
Intensive Care Med 21:826–831 CrossRef CAS PubMed Google Scholar Knochel JP, Bilbrey GL, Fuller TG (1975) The muscle cell in chronic alcoholism: the possible role of phosphate depletion in alcoholic myopathy. [link.springer.com]
Children with vitamin D-deficiency rickets may have bone pain, myopathy, and hypocalcemia. Causes include: * nutritional deprivation; * lack of sunlight; * gastrointestinal and liver disease; and * anti-convulsant therapy. Treatment. [healio.com]
• CLINICAL FEATURES:- • MUSCLE DISORDERS: Proximal myopathy, dysphagia and ileus • Myocardial dysfunction • Respiratory failure and failed weaning from ventilators • Hemolysis, thrombocytopenia • Metabolic acidosis and metabolic encephalopathy 76 77 [slideshare.net]
Workup
Serum
- Hypophosphatemia
Hypophosphatemia – Long-standing hypophosphatemia can result in nephrolithiasis and rickets. [clinicaladvisor.com]
Hypophosphatemia is defined as serum phosphorus < 2.5 mg/dl (0.81 mmol/L) and severe hypophosphatemia is defined as serum phosphorus < 1 mg/dl (0.32 mmol/L). [renalandurologynews.com]
Hypophosphatemia (low phosphorus level) Phosphorus metabolism disorder Rickets, hypophosphatasia Rickets, hypophosphatemic VIT D refractory, familial Vitamin D-dependent rickets, type 2 Applies To Familial hypophosphatemia Hypophosphatasia Vitamin D-resistant [icd9data.com]
Hypophosphatemia Hypophosphaturia Iatrogenic hyperphosphatemia Idiopathic hyperphosphatasemia Infantile hypophosphatasia Mabry syndrome Nutritional hypophosphatemia Odontohypophosphatasia Periodontitis co-occurrent with genetic disorder Periodontitis [healthprovidersdata.com]
) Disorders of phosphorus metabolism and phosphatases Approximate Synonyms Hyperphosphatemia Hyperphosphatemia (high phosphate level) Hypophosphatasia Hypophosphatemia Hypophosphatemia (low phosphorus level) Rickets, hypophosphatasia Clinical Information [icd10data.com]
- Hypophosphatemia
Hypophosphatemia – Long-standing hypophosphatemia can result in nephrolithiasis and rickets. [clinicaladvisor.com]
Hypophosphatemia is defined as serum phosphorus < 2.5 mg/dl (0.81 mmol/L) and severe hypophosphatemia is defined as serum phosphorus < 1 mg/dl (0.32 mmol/L). [renalandurologynews.com]
Hypophosphatemia (low phosphorus level) Phosphorus metabolism disorder Rickets, hypophosphatasia Rickets, hypophosphatemic VIT D refractory, familial Vitamin D-dependent rickets, type 2 Applies To Familial hypophosphatemia Hypophosphatasia Vitamin D-resistant [icd9data.com]
Hypophosphatemia Hypophosphaturia Iatrogenic hyperphosphatemia Idiopathic hyperphosphatasemia Infantile hypophosphatasia Mabry syndrome Nutritional hypophosphatemia Odontohypophosphatasia Periodontitis co-occurrent with genetic disorder Periodontitis [healthprovidersdata.com]
) Disorders of phosphorus metabolism and phosphatases Approximate Synonyms Hyperphosphatemia Hyperphosphatemia (high phosphate level) Hypophosphatasia Hypophosphatemia Hypophosphatemia (low phosphorus level) Rickets, hypophosphatasia Clinical Information [icd10data.com]
- Philadelphia Chromosome Positive
Acta Chir Scand 145:1–6 CAS PubMed Google Scholar Ra’anani P, Lahav M, Prokocimer M et al (1992) Life threatening hypophosphataemia in a patient with Philadelphia chromosome-positive chronic myelogenous leukaemia in acute blastic crisis. [link.springer.com]
Treatment
Lost bone cannot be replaced, but the treatment team will work with you to prevent further weakening. [washendo.com]
Treatment requires increasing the body’s level of vitamin D by making dietary changes and taking supplements. [decorlando.com]
Radiation or drugs: Neck or chest irradiation during radiotherapy treatment. Radioactive iodine treatment for hyperthyroidism: a rare side-effect. Chemotherapeutic/cytotoxic agents. Alcohol. [patient.info]
Bone fractures Treatment of Secondary Hyperparathyroidism Treatment of secondary hyperparathyroidism is with high doses of Vitamin D. Close monitoring of blood calcium and phosphorus level is important. [onlinemedinfo.com]
Treatment of primary and tertiary hyperparathyroidism is surgical. [healio.com]
Prognosis
Prognosis The prognosis for treating hyperphosphatemia and hypophosphatemia are excellent, though in cases where these problems are due to genetic disease, lifelong hormone treatment may be necessary. [medical-dictionary.thefreedictionary.com]
Prognosis The regular monitoring required to ensure appropriate calcium levels means that the prognosis is challenging for many people. This may improve if synthetic PTH becomes widely available. [patient.info]
Depending on the severity of the diet, site of fractures (e.g. thoracic (chest) area has potential for extremely grave prognosis), age of animal, and other problems (e.g. parasites, infection, etc.), the animal is ill enough to die at any point if intervention [opossum.org]
With serum phosphorus and calcium levels, it is widely accepted that standard levels be set based on the relationship with life prognosis [ 22, 26, 27 ]. [mdpi.com]
Etiology
Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology. [icd10coded.com]
If FEPO4 is > 5%, renal wasting is present, implicating hyperparathyroidism or alternate etiologies of renal tubular defects. [clinicaladvisor.com]
OSTEITIS DEFORMANS • Early • Intermediate • Late • Etiology Genetic link Viral infection Inflammatory Vascular disorders Autoimmune connective tissue 72 73. [slideshare.net]
Hypoparathyroidism (HPT) is a disease caused by insufficient secretion of Parathyroid Hormone (PTH) and with unknown etiology. [alliedacademies.org]
Epidemiology
^ "Inherited Metabolic Disorders Overview: Overview, Clinical Features and Differential Diagnosis, Epidemiology and Statistics". 2018-08-09. ^ "Inborn errors of metabolism". MedlinePlus Medical Encyclopedia. [en.wikipedia.org]
Epidemiology This is a rare disorder. Found equally in males and females. Age of onset depends on the aetiology. Aetiology Hypoparathyroidism may be transient, congenital/genetically inherited or acquired. [patient.info]
In some studies, risk associations have also been reported between the development and progression of calcification, and epidemiological and biochemical parameters [ 97, 98, 99, 100 ]. [mdpi.com]
Pathophysiology
Since publication of the KDIGO CKD–MBD guideline in 2009, our understanding of disease pathophysiology has improved; however, a paucity of high-quality clinical evidence to support specific interventions remains. [nature.com]
In terms of pathophysiological/mechanism interactions, an abnormal gut microbioma can play a role in metabolic disorder related obesity. [8] Screening [ edit ] Metabolic disorder screening can be done in newborns via the following methods: [9] Blood test [en.wikipedia.org]
Bibliografia Rubin MF, Narins RG (1990) Hypophosphatemia: pathophysiological and practical aspects of its therapy. [link.springer.com]
Pathophysiology, therapy, and oral implications of renal failure in children and adolescents: an update. Pediatr Dent 2005; 27: 98-106. Assadi F. Hypophosphatemia: an evidence-based problem-solving approach to clinical cases. [alliedacademies.org]
Prevention
Prevention Phosphorus imbalances caused by hormonal disorders or other genetically determined conditions cannot be prevented. [medical-dictionary.thefreedictionary.com]
Prevention of Metabolic Bone Disease in Reptiles Proper husbandry is more than just providing the right diet. [thespruce.com]
The Johns Hopkins Metabolic Bone and Osteoporosis Center focuses on services designed to prevent, diagnose and treat many kinds of bone diseases, including: Osteoporosis and osteopenia in men and women Fragility and recurrent fractures Vitamin D deficiency [hopkinsmedicine.org]
How can disorders of phosphorus be prevented? Monitor for abnormal Phos levels in the context of conditions that present risk of derangement such as renal insufficiency, rhabdomyolysis, or use of amphotericin B. [clinicaladvisor.com]
Prevention by 1.25 dihydroxyvitamin D,. } Clin tnveít 1979; 63:371. 3. Massey LK. Strang MM: Soft drink consumption, phosphorus intake and osteoporosis. [healio.com]