hypophosphatemic nephrolithiasis/osteoporosis 1

Hypophosphatemic Nephrolithiasis/Osteoporosis 1 (NPHLOP1) is a rare genetic disorder characterized by decreased renal phosphate absorption, leading to hypophosphatemia, hyperphosphaturia, and hypercalciuria. This condition results in the formation of renal calcium stones or bone demineralization, also known as osteoporosis.

The disease is caused by defects in the SLC34A1 gene, which encodes for a sodium-phosphate cotransporter responsible for phosphate reabsorption in the kidneys [7]. This genetic mutation leads to an increased excretion of phosphates in the urine and decreased levels of phosphate in the blood, resulting in the characteristic symptoms of NPHLOP1.

The clinical features of NPHLOP1 include:

• Abnormality of metabolism/homeostasis
• Hypophosphatemia (low phosphate levels in the blood)
• Hyperphosphaturia (excessive excretion of phosphates in the urine)
• Hypercalciuria (excessive excretion of calcium in the urine)
• Nephrolithiasis (formation of kidney stones)
• Osteoporosis (bone demineralization)

NPHLOP1 is a rare and inherited disorder, with only a few reported cases in medical literature [7]. The disease is characterized by its unique combination of renal and skeletal manifestations, making it distinct from other forms of hypophosphatemic nephrolithiasis/osteoporosis.

References: [1] - Not applicable (this information was not present in the search results) [2] - Not applicable [3] - Not applicable [4] - Not applicable [5] - Not applicable [6] - Not applicable [7] A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis ... Defects in SLC34A1 are the cause of hypophosphatemic nephrolithiasis/osteoporosis type 1 (NPHLOP1; MIM:612286), disease characterised by decreased renal ... [8] - Not applicable [9] - Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. N Engl J Med. 2002 Sep 26; ...

Hypophosphatemic Nephrolithiasis/Osteoporosis: Signs and Symptoms

Hypophosphatemic nephrolithiasis/osteoporosis is a rare genetic disorder characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis. The symptoms of this condition can vary depending on the severity and duration of hypophosphatemia.

Common Symptoms:

• Muscle weakness and generalized weakness [5]
• Nonspecific symptoms such as fatigue, malaise, and weight loss [5]
• Bone pain and tenderness, particularly in the back and hips [6]
• Loss of height over time due to vertebral compression fractures [6]
• A stooped posture due to weakened bones [6]

Specific Symptoms:

• In patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH), symptoms may include:
  • Nephrolithiasis and recurrent kidney stones [15]
  • Hypercalciuria and increased risk of osteoporosis [15]

Important Notes:

• Symptoms can be nonspecific and highly dependent on cause, duration, and severity [5].
• Early stages of bone loss may not have any symptoms, but once bones are weakened by osteoporosis, signs and symptoms become apparent [6].

References:

[1] Context 1 [5] Context 5 [6] Context 6 [15] Context 15

Diagnostic Tests for Hypophosphatemic Nephrolithiasis/Osteoporosis 1

Hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1) is a rare genetic disorder characterized by low phosphate levels in the blood, leading to kidney stones and bone demineralization. Diagnostic tests are essential for accurate diagnosis and management of this condition.

Available Diagnostic Tests:

• SLC34A1 Gene Test: This test analyzes the SLC34A1 gene, which is associated with NPHLOP1. The test can be performed on whole blood or DNA samples.
• Clinical Genetic Test: PreventionGenetics offers a clinical genetic test for conditions like NPHLOP1. This test evaluates various genes and can provide a comprehensive diagnosis.

Other Relevant Information:

• Hypophosphatemic nephrolithiasis/osteoporosis 2 (NPHLOP2) is another condition that shares similar symptoms with NPHLOP1.
• The Invitae Nephrolithiasis Panel analyzes genes associated with nephrolithiasis, which may include the SLC34A1 gene.

References:

• [6] SLC34A1 - nephrolithiasis / hypophosphatemic osteoporosis type 1. This test is available for the following conditions.
• [3] Candidates for this test are patients with hypophosphatemic nephrolithiasis/osteoporosis-2 (NPHLOP2).
• [6] SLC34A1 - nephrolithiasis / hypophosphatemic osteoporosis type 1. This test is available for the following conditions.
• [9] Search for a diagnostic test · Molecular diagnosis of Nephrolithiasis/Hypophosphatemic Osteoporosis type 1 and 2 (SLC34A1 and SLC9A3R1 gene).

Treatment Options for Hypophosphatemic Nephrolithiasis/Osteoporosis

Hypophosphatemic nephrolithiasis/osteoporosis is a condition characterized by low phosphate levels in the blood, leading to kidney stones and osteoporosis. While there are various treatment options available, the primary goal of therapy is to correct hypophosphatemia and prevent further complications.

Phosphate Supplementation

The conventional treatment for hypophosphatemic nephrolithiasis/osteoporosis involves long-term phosphorous supplementation [4]. This can be achieved through oral phosphate salts or vitamin D metabolites/analogues as replacement therapy, with a goal of correcting low phosphate levels and preventing further complications [2].

Bisphosphonates

In some cases, bisphosphonates may be used to treat hypophosphatemic nephrolithiasis/osteoporosis. These medications are effective in reducing bone resorption and can help prevent osteoporosis-related fractures [8][9]. However, their use should be carefully considered on a case-by-case basis.

Vitamin D3 Analogues

Vitamin D3 analogues may also be used to treat hypophosphatemic nephrolithiasis/osteoporosis. These medications can help regulate calcium and phosphate metabolism in the body [5].

Newer Therapies

In recent years, newer therapies such as burosumab (Crysvita) have been approved for the treatment of X-linked hypophosphatemia (XLH), a related condition to hypophosphatemic nephrolithiasis/osteoporosis. Burosumab works by increasing phosphate reabsorption in the kidneys and has shown promise in correcting low phosphate levels [6].

Current Treatment Guidelines

The current treatment guidelines for hypophosphatemic nephrolithiasis/osteoporosis emphasize the importance of long-term phosphorous supplementation as a first-line therapy. However, individualized treatment plans may be necessary based on patient-specific factors and comorbidities.

References:

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[2] Context 2

[4] Context 4

[5] Context 5

[6] Context 6

[8] Context 8

[9] Context 9

Differential Diagnosis of Hypophosphatemic Nephrolithiasis/Osteoporosis Type 1

Hypophosphatemic nephrolithiasis/osteoporosis type 1 (NPHLOP1) is a rare genetic disorder characterized by hypophosphatemia, nephrolithiasis, and osteoporosis. The differential diagnosis of NPHLOP1 includes other forms of inherited hypophosphatemia such as X-linked hypophosphatemia (XLH), autosomal recessive hypophosphatemic rickets, and hypophosphatemic rickets with and without nephrocalcinosis/nephrolithiasis.

Other Conditions to Consider:

• X-linked Hypophosphatemia (XLH): The most common genetic form of hypophosphatemia, which can present with isolated hypophosphatemia or severe lower extremity bowing and/or craniosynostosis [5].
• Autosomal Recessive Hypophosphatemic Rickets: A rare inherited disorder characterized by rickets, osteomalacia, and hypophosphatemia [3].
• Hypophosphatemic Rickets with and without Nephrocalcinosis/Nephrolithiasis: A condition that can present with skeletal deformities, growth plate abnormalities, and nephrocalcinosis/nephrolithiasis [8][10].

Key Features to Consider:

• Hypophosphatemia
• Nephrolithiasis
• Osteoporosis
• Skeletal deformities
• Growth plate abnormalities

References:

[1] Context result 4, which states that "Hypophosphatemia nephrolithiasis osteoporosis type 1 (NPHLOP1) is caused by heterozygous mutation in the SLC34A1 gene." [3] Context result 7, which mentions that "Hypophosphatemic rickets has a wide differential diagnosis (Table 1). Although XLH is the most common genetic form, both acquired and rarer inherited forms should be considered." [5] Context result 5, which states that "The phenotypic spectrum of X-linked hypophosphatemia (XLH) ranges from isolated hypophosphatemia to severe lower extremity bowing and/or craniosynostosis." [8] Context result 8, which provides a figure showing the differential diagnosis of hypophosphatemic disorders with and without nephrocalcinosis/nephrolithiasis. [10] Context result 9, which describes a case of hypophosphatemic osteomalacia in an adult patient.