renal hypomagnesemia 5 with ocular involvement

Renal hypomagnesemia 5 with ocular involvement, also known as HOMG5, is an autosomal recessive disorder characterized by severe renal magnesium wasting, progressive renal failure, nephrocalcinosis, and severe visual impairment [1][10]. This condition is caused by homozygous or compound heterozygous mutation in the claudin-19 gene (CLDN19; 610036) on chromosome 3q28 [2].

Some patients with HOMG5 may also experience amelogenesis imperfecta, a condition that affects tooth development and structure [1][10]. The genetic heterogeneity of renal hypomagnesemia is discussed in more detail in [11].

The symptoms of HOMG5 include:

• Severe renal magnesium wasting
• Progressive renal failure
• Nephrocalcinosis (calcium deposits in the kidneys)
• Severe visual impairment

It's worth noting that HOMG5 is a rare condition, and there may be limited information available on it. However, based on the search results provided, it appears to be a serious and potentially life-threatening disorder that requires prompt medical attention.

References:

[1] Konrad et al., 2006 [2] Yamaguti et al., 2017 [10] HOMG5 is an autosomal recessive disorder characterized by severe renal magnesium wasting, progressive renal failure, nephrocalcinosis, and severe visual impairment (Konrad et al., 2006). Amelogenesis imperfecta may also be present in some patients (Yamaguti et al., 2017). [11] For a discussion of genetic heterogeneity of renal hypomagnesemia, see ...

Renal hypomagnesemia 5 with ocular involvement, also known as HOMG5, is a rare genetic disorder characterized by severe renal magnesium wasting, progressive renal failure, and nephrocalcinosis. The condition is associated with several clinical signs and symptoms.

Common Symptoms:

• Severe renal magnesium wasting
• Progressive renal failure
• Nephrocalcinosis (calcium deposits in the kidneys)
• Abdominal pain
• Convulsions
• Muscular tetany (muscle cramps or spasms)

Ocular Involvement:

• Myopia (nearsightedness)
• Nystagmus (involuntary eye movements)
• Coloboma (a hole in the iris or retina)

These symptoms can vary in severity and may be present at birth or develop later in life. It's essential to note that HOMG5 is an autosomal recessive disorder, meaning it is inherited from both parents.

Additional Biochemical Abnormalities:

• Elevated parathyroid hormone (PTH) levels
• Hypocitraturia (low citrate levels in the urine)

These biochemical abnormalities can contribute to the development of kidney stones and other complications associated with HOMG5.

References:

• [3] Additional symptoms at manifestation include abdominal pain, convulsions, muscular tetany, incomplete distal renal tubular acidosis, and hypocitraturia.
• [4] HOMG5 is an autosomal recessive disorder characterized by severe renal magnesium wasting, progressive renal failure, and nephrocalcinosis.
• [6] Mutations in claudin-19 are also associated with severe ocular involvement that may include myopia, nystagmus, or coloboma.
• [8] Clinical signs of severe hypomagnesaemia such as seizures and muscular tetany are less common. Additional biochemical abnormalities include elevated PTH levels.

Based on the available information, it appears that diagnostic tests for renal hypomagnesemia 5 with ocular involvement are primarily focused on identifying the underlying genetic cause of the condition.

• Genetic testing: Genetic tests can be performed to identify mutations in the CLDN19 gene, which is associated with this condition (see [1], [4]). These tests can be conducted from a blood sample or DNA sample.
• Urine and blood biochemistry studies: Assessment of urine and blood biochemistry studies can aid in determining further genetic testing and diagnosis (see [8]).
• Imaging services: While not directly related to the diagnostic tests for renal hypomagnesemia 5 with ocular involvement, imaging services such as MRI scans, CT scans, X-rays, ultrasounds & screening mammograms may be used to monitor or assess other symptoms associated with this condition (see [13]).

It's essential to note that a comprehensive diagnosis of renal hypomagnesemia 5 with ocular involvement requires a multidisciplinary approach and consultation with specialists in genetics, nephrology, and ophthalmology.

References:

[1] HOMG5 is an autosomal recessive disorder characterized by severe renal magnesium wasting, progressive renal failure, nephrocalcinosis, and severe visual impairment (Konrad et al., 2006).

[4] Disease code: OMIM:248190 · Associated therapeutic area(s):. Abnormality of the musculoskeletal system (HP:0033127) · Prenalytics: 5 mL whole blood or DNA sample

[8] by MH Tseng · 2022 · Cited by 14 — The mode of inheritance, assessment of urine and blood biochemistry studies, presence of extra-renal symptoms all aid in determination of further genetic ...

[13] Novant Health Imaging Museum offers imaging services: MRI scans, CT scans, X-rays, ultrasounds & screening mammograms. Contact us for an appointment.

Treatment Options for Renal Hypomagnesemia with Ocular Involvement

Renal hypomagnesemia, also known as familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), is a rare genetic disorder characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, and severe ocular involvement. While there is no specific treatment for FHHNC, supportive therapy can help manage the symptoms.

Supportive Therapy

• Oral Magnesium Supplementation: Mg2+ oral supplementation is considered the most suitable supportive treatment in patients with preserved renal function [7]. This involves taking magnesium-rich medications to replace lost magnesium levels.
• Thiazide Diuretics: Thiazide diuretics can help reduce calcium excretion and promote magnesium reabsorption in the kidneys [8].

Parenteral Magnesium Supplementation

In cases of acute symptomatic hypomagnesemia, parenteral Mg2+ supplementation may be considered to alleviate potential complications [10]. This involves administering magnesium intravenously to rapidly correct low magnesium levels.

Kidney Transplantation

For patients with severe FHHNC, kidney transplantation can be a curative option. In fact, studies have shown that kidney transplant cures FHHNC in most cases, and disease carriers can even serve as donors [9].

It's essential to note that these treatment options are supportive and not curative. Patients should consult with a healthcare professional for personalized advice and treatment.

References: [5] Knoers NVAM (2009) - Acquired renal magnesium wasting [7] Bennati G (2023) - Mg2+ oral supplementation in patients with FHHNC [8] Claverie-Martin F (2015) - Clinical utility gene card for: familial hypomagnesemia with hypercalciuria and nephrocalcinosis [10] Tseng MH (2022) - Parenteral Mg2+ supplementation in acute symptomatic hypomagnesemia

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