Somali

PRA-rdac - Progressive Retinal Atrophy

Progressive loss of vision

Description: Progressive rod-cone degeneration

Symptoms : Progressive loss of vision (at night and then in daylight) culminating in blindness

Age of onset : Between 1 and 2 years old

Frequency : Not available

Gene involved : CEP290

Tested mutation : IVS50 + 9T>G

Transmission : Autosomal Recessive

Patent : _

Notes : _

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Somali

PKDef - Pyruvate Kinase Deficiency

Hemolytic anaemia

Description: Lack of the pyruvate kinase enzyme causing an early destruction of red blood cells, leading to an anaemia more or less severe according to individuals

Symptoms : Lethargy, diarrhea, pale mucous membranes, lack of appetite, weight loss, icterus

Age of onset : Variable. Some rare cases declare an early severe form. Anaemia may only be moderate and intermittently detectable. In mild cases, symptoms may be late onset.

Frequency : 6% carriers in the studied population (USA and UK)

Gene involved : PKLR

Tested mutation : c.693+304G>A

Transmission : Autosomal Recessive

Patent :

Notes :

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Somali

Renal Amyloidosis

Kidney failure

Speciality Nephrology

Description : Renal amyloidosis is considered a subset of systemic amyloidosis resulting from amyloid deposition; deposits occur in many organs kidney, liver, thyroid…) but the primary clinical picture results from the renal deposits

Symptoms : Progressive and ultimately fatal renal failure

Age of onset : Between 1 and 5 years old

Examination : Definitive diagnosis can be made only by histological analysis on kidney biopsy or post-mortem sample of kidney.

Progress : Undergoing sampling

Prélèvements pour participer à la recherche : Blood sample in EDTA tube (1-3 mL) or, failing that, a cheek swab (with 2 cytobrushes). In case of death, whatever the reason: • Sample and put promptly a kidney in formalin for histological analysis, and a piece of tissue in alcohol (e.g. tongue) for

Documents to be attached to samples : Clinical certificate, Sampling certificate, Copy of pedigree

Collaboration : -

Contact : Renal amyloidosis is considered a subset of systemic amyloidosis resulting from amyloid deposition; deposits occur in many organs kidney, liver, thyroid…) but the primary clinical picture results from the renal deposits

Comment : Progressive and ultimately fatal renal failure

Somali

Renal Amyloidosis

Kidney failure

Speciality Nephrology

Description : Renal amyloidosis is considered a subset of systemic amyloidosis resulting from amyloid deposition; deposits occur in many organs kidney, liver, thyroid…) but the primary clinical picture results from the renal deposits

Symptoms : Progressive and ultimately fatal renal failure

Age of onset : Between 1 and 5 years old

Examination : Definitive diagnosis can be made only by histological analysis on kidney biopsy or post-mortem sample of kidney.

Progress : Undergoing sampling

Prélèvements pour participer à la recherche : Blood sample in EDTA tube (1-3 mL) or, failing that, a cheek swab (with 2 cytobrushes). In case of death, whatever the reason: • Sample and put promptly a kidney in formalin for histological analysis, and a piece of tissue in alcohol (e.g. tongue) for

Documents to be attached to samples : Clinical certificate, Sampling certificate, Copy of pedigree

Collaboration : -

Contact : Renal amyloidosis is considered a subset of systemic amyloidosis resulting from amyloid deposition; deposits occur in many organs kidney, liver, thyroid…) but the primary clinical picture results from the renal deposits

Comment : Progressive and ultimately fatal renal failure