renal hypomagnesemia 3

Renal hypomagnesemia 3, also known as familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN), is a progressive renal disorder characterized by excessive urinary Ca(2+) and Mg(2+) excretion, leading to nephrocalcinosis and other complications.

Key Features:

• Excessive urinary excretion of calcium (Ca(2+)) and magnesium (Mg(2+))
• Nephrocalcinosis (calcium deposits in the kidneys)
• Recurrent urinary tract infections
• Bilateral nephrocalcinosis
• Renal tubular acidosis (incomplete distal renal tubular acidosis)
• Hypocitraturia (low citrate levels in the urine)

Causes:

• Autosomal recessive inheritance due to mutations in the CLDN16 gene (3q27) [5, 6]
• Defects in the CLDN16 (alternatively PCLN-1) gene [8]

Symptoms: Abdominal pain, convulsions, muscular tetany, and other symptoms may occur at manifestation [4].

This condition is a rare genetic disorder that affects the kidneys' ability to reabsorb magnesium and calcium, leading to excessive loss of these essential minerals in the urine.

Renal Hypomagnesemia Signs and Symptoms

Hypomagnesemia, a condition characterized by low magnesium levels in the blood, can manifest

To diagnose inherited renal hypomagnesemia, several diagnostic tests can be performed to rule out acquired etiologies and confirm the presence of a genetic disorder.

• Exclusion of acquired etiologies: This involves assessing the patient's history, physical examination, and laboratory results to determine if the hypomagnesemia is caused by factors such as gastrointestinal losses or increased urinary magnesium excretion. [3]
• Urine and blood biochemistry studies: These tests can help identify abnormalities in magnesium handling and provide clues about the underlying genetic disorder. [3]
• Presence of extra-renal symptoms: Certain genetic disorders associated with renal hypomagnesemia may also present with extra-renal symptoms, such as hearing loss or muscle weakness. [3]

These diagnostic tests are essential to determine if the patient has inherited renal hypomagnesemia and to rule out other potential causes of hypomagnesemia.

References: [1] Context result 3 [2] Context result 7

Treatment Options for Renal Hypomagnesemia

Renal hypomagnesemia can

Causes of Renal Hypomagnesemia

Renal hypomagnesemia, also known as magnesium wasting in the kidneys, can be caused by several factors. Some of these causes include:

• Diuretic use: The use of diuretics, such as thiazide and loop diuretics, can lead to excessive loss of magnesium in the urine.
• Inherited renal tubular defects: Certain genetic conditions can affect the kidneys' ability to reabsorb magnesium, leading to its excessive loss in the urine.
• Medications: Certain medications, such as aminoglycoside antibiotics and certain chemotherapy agents, can cause renal hypomagnesemia.

These causes of renal hypomagnesemia can lead to low levels of magnesium in the blood, which can have serious consequences if left untreated. It is essential to identify and address these underlying causes to prevent further complications.

References:

• [4] Magnesium depletion usually results from inadequate intake plus impairment of renal conservation or gastrointestinal absorption.
• [5] In general, causes of hypomagnesemia can be divided into two categories: high renal Mg2+ excretion and low renal Mg2+ excretion including gastrointestinal, ...
• [9] The most important clinical diagnostic tool for differentiating hypomagnesemia of renal origin from intestinal hypomagnesemia is determination ...